2-propanol has been researched along with Syndrome in 506 studies
2-Propanol: An isomer of 1-PROPANOL. It is a colorless liquid having disinfectant properties. It is used in the manufacture of acetone and its derivatives and as a solvent. Topically, it is used as an antiseptic.
propan-2-ol : A secondary alcohol that is propane in which one of the hydrogens attached to the central carbon is substituted by a hydroxy group.
Syndrome: A characteristic symptom complex.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome." | 8.75 | [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975) |
| "To describe a case of bilateral acute iris transillumination (BAIT)-like syndrome following intracameral moxifloxacin injection after cataract surgery." | 8.12 | Unilateral acute iris transillumination like syndrome following intracameral moxifloxacin injection. ( Compains Silva, E; Echeverria-Palacios, M; Mozo Cuadrado, M; Zubicoa, A, 2022) |
| "To determine the mechanism of intraoperative floppy-iris syndrome (IFIS) by examining the binding affinity of tamsulosin and silodosin to α-receptors and melanin pigment using control and α(2)-blocker chronically administered in rabbit models." | 7.78 | Effects of tamsulosin and silodosin on isolated albino and pigmented rabbit iris dilators: possible mechanism of intraoperative floppy-iris syndrome. ( Goseki, T; Ishikawa, H; Mashimo, K; Nemoto, N; Ogasawara, S; Shimizu, K; Taguchi, Y; Yago, K, 2012) |
| "To describe the use of intracameral phenylephrine to prevent the floppy iris syndrome seen in patients who are on the drug tamsulosin for benign prostatic hypertrophy, during cataract surgery." | 7.74 | Intracameral phenylephrine to prevent floppy iris syndrome during cataract surgery in patients on tamsulosin. ( Gurbaxani, A; Packard, R, 2007) |
| "We describe a technique combining preoperative atropine sulfate 1% and intraoperative intracameral epinephrine in a 1:2500 dilution for the management of intraoperative floppy-iris syndrome (IFIS) induced by alpha(1A)-blocking agents such as tamsulosin." | 7.74 | Combined preoperative topical atropine sulfate 1% and intracameral nonpreserved epinephrine hydrochloride 1:4000 [corrected] for management of intraoperative floppy-iris syndrome. ( Belani, S; Masket, S, 2007) |
| "Intraoperative floppy-iris syndrome (IFIS) is a recently identified condition associated with phacoemulsification in patients using the alpha1-antagonist tamsulosin (Flomax)." | 7.73 | Preoperative use of atropine to prevent intraoperative floppy-iris syndrome in patients taking tamsulosin. ( Bendel, RE; Phillips, MB, 2006) |
| "To report changes in angle configuration associated with dark, light, and pilocarpine administration in plateau iris syndrome." | 7.70 | Plateau iris syndrome: changes in angle opening associated with dark, light, and pilocarpine administration. ( Foster, FS; Pavlin, CJ, 1999) |
| "Forty-nine patients with bilateral pigmentary dispersion syndrome (abnormal accumulation of pigment in the anterior chamber, principally from the posterior layers of the iris), including 31 patients with pigmentary glaucoma, underwent 10% phenylephrine testing in one eye for evaluation of liberation of pigment floaters into the anterior chamber and the influence of phenylephrine on the intraocular pressure." | 7.66 | Phenylephrine provocative testing in the pigmentary dispersion syndrome. ( Boger, WP; Epstein, DL; Grant, WM, 1978) |
| "Tamsulosin was more effective than alfuzosin at blocking adrenergic contraction of the iris dilator muscle in pigmented rabbits." | 5.35 | Comparative effect of alfuzosin and tamsulosin on the contractile response of isolated rabbit prostatic and iris dilator smooth muscles: possible model for intraoperative floppy-iris syndrome. ( Chang, DF; Lluel, P; Palea, S; Regnier, A; Rekik, M, 2008) |
| "To evaluate risk factors (hypertension, diabetes mellitus, and current tamsulosin, alfuzosin, terazosin, or doxazosin use) for intraoperative floppy iris syndrome (IFIS) in patients undergoing phacoemulsification cataract surgery." | 4.87 | Risk factors for intraoperative floppy iris syndrome: a meta-analysis. ( Chatziralli, IP; Sergentanis, TN, 2011) |
| "We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome." | 4.75 | [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975) |
| "To describe a case of bilateral acute iris transillumination (BAIT)-like syndrome following intracameral moxifloxacin injection after cataract surgery." | 4.12 | Unilateral acute iris transillumination like syndrome following intracameral moxifloxacin injection. ( Compains Silva, E; Echeverria-Palacios, M; Mozo Cuadrado, M; Zubicoa, A, 2022) |
| " The following patient information was collected: gender, age, axial length of the eye, presence of pseudoexfoliation syndrome, glaucoma, diabetes mellitus, hypertension, current use of medications including alpha1 adrenergic receptor antagonists (alpha1-ARAs), finasteride, and benzodiazepines, duration of intake of alpha1-ARAs and finasteride, and duration of the surgery." | 3.91 | Clinical risk factors associated with intraoperative floppy iris syndrome: a prospective study. ( Kaczmarek, IA; Prost, ME; Wasyluk, J, 2019) |
| "The case is presented of a 53 year-old woman, who, after being treated with moxifloxacin for an upper respiratory tract infection, developed a BAIT syndrome, which was initially diagnosed as acute anterior uveitis." | 3.88 | Bilateral acute iris transillumination syndrome. A case report. ( Fanlo, P; Heras-Mulero, H; Plaza-Ramos, P; Zubicoa, A, 2018) |
| "To determine the mechanism of intraoperative floppy-iris syndrome (IFIS) by examining the binding affinity of tamsulosin and silodosin to α-receptors and melanin pigment using control and α(2)-blocker chronically administered in rabbit models." | 3.78 | Effects of tamsulosin and silodosin on isolated albino and pigmented rabbit iris dilators: possible mechanism of intraoperative floppy-iris syndrome. ( Goseki, T; Ishikawa, H; Mashimo, K; Nemoto, N; Ogasawara, S; Shimizu, K; Taguchi, Y; Yago, K, 2012) |
| "To describe the use of intracameral phenylephrine to prevent the floppy iris syndrome seen in patients who are on the drug tamsulosin for benign prostatic hypertrophy, during cataract surgery." | 3.74 | Intracameral phenylephrine to prevent floppy iris syndrome during cataract surgery in patients on tamsulosin. ( Gurbaxani, A; Packard, R, 2007) |
| "We describe a technique combining preoperative atropine sulfate 1% and intraoperative intracameral epinephrine in a 1:2500 dilution for the management of intraoperative floppy-iris syndrome (IFIS) induced by alpha(1A)-blocking agents such as tamsulosin." | 3.74 | Combined preoperative topical atropine sulfate 1% and intracameral nonpreserved epinephrine hydrochloride 1:4000 [corrected] for management of intraoperative floppy-iris syndrome. ( Belani, S; Masket, S, 2007) |
| "Intraoperative floppy-iris syndrome (IFIS) is a recently identified condition associated with phacoemulsification in patients using the alpha1-antagonist tamsulosin (Flomax)." | 3.73 | Preoperative use of atropine to prevent intraoperative floppy-iris syndrome in patients taking tamsulosin. ( Bendel, RE; Phillips, MB, 2006) |
| "To demonstrate a progressive approach to the problems of intraoperative floppy-iris syndrome (IFIS) in cataract surgery caused by tamsulosin." | 3.73 | Cataract surgery management in patients taking tamsulosin staged approach. ( Allen, D; Manvikar, S, 2006) |
| "To report changes in angle configuration associated with dark, light, and pilocarpine administration in plateau iris syndrome." | 3.70 | Plateau iris syndrome: changes in angle opening associated with dark, light, and pilocarpine administration. ( Foster, FS; Pavlin, CJ, 1999) |
| "Forty-nine patients with bilateral pigmentary dispersion syndrome (abnormal accumulation of pigment in the anterior chamber, principally from the posterior layers of the iris), including 31 patients with pigmentary glaucoma, underwent 10% phenylephrine testing in one eye for evaluation of liberation of pigment floaters into the anterior chamber and the influence of phenylephrine on the intraocular pressure." | 3.66 | Phenylephrine provocative testing in the pigmentary dispersion syndrome. ( Boger, WP; Epstein, DL; Grant, WM, 1978) |
| " The long-term blocking alfa-1 adrenergic receptors by the chronic use of a number of systemic medications may lead to permanent anatomical atrophy of the dilator muscle of the iris." | 3.01 | Floppy iris syndrome associated with specific medication intake: A narrative review. ( Karhanova, M; Lounova, V; Maluskova, M; Maresova, K; Vidlar, A, 2023) |
| "Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder." | 2.72 | Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. ( Kosaki, K; Miyama, S; Sakaguchi, Y; Takenouchi, T; Uehara, T; Yoshihashi, H, 2021) |
| "The echocardiogram revealed an atrial septal defect with interatrial aneurysm." | 2.41 | Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. ( Bekir, NA; Güngör, K, 2000) |
| "Mild to moderate mental retardation was found in 32% (16/50) of the cases." | 2.41 | Phenotypic variability of Cat-Eye syndrome. ( Berends, MJ; Leegte, B; Tan-Sindhunata, G; van Essen, AJ, 2001) |
| "Axenfeld-Rieger syndrome is a term that can be used to describe a variety of overlapping phenotypes." | 2.41 | Axenfeld-Rieger syndrome in the age of molecular genetics. ( Alward, WL, 2000) |
| "Rieger's syndrome is a rare autosomal-dominant disorder characterized by dental, ocular, and periumbilical abnormalities." | 2.40 | Rieger's syndrome: a case report. ( John, R; Munshi, AK; Prabhu, NT, 1997) |
| "The biologic peculiarities of tumors of early life are elucidated." | 2.35 | Neoplasia of early life and its relationships to teratogenesis. ( Bolande, RP, 1976) |
| "Pituitary dwarfism is a genetically heterogeneous group of disorders associated with a variety of pathogenetic mechanisms which may involve any level of the hypothalamic-pituitary-somatomedin-peripheral tissue axis." | 2.35 | Hereditary forms of growth hormone deficiency and resistance. ( Rimoin, DL, 1976) |
| "In January 2021, we found one case of Axenfeld-Rieger syndrome combined with pigment dispersion syndrome (PDS), and this patient additionally manifested a symptom of ectropion uveae." | 1.91 | Axenfeld-Rieger syndrome combined with ectropion uveae and pigment dispersion syndrome: A case report. ( Bi, H; Li, Y; Liu, J; Ma, X; Tian, Q; Zhao, Y, 2023) |
| "Traboulsi syndrome is a rare autosomal recessive genetic disorder." | 1.62 | A novel mutation in the aspartate beta-hydroxylase ( ( Kaur, I; Senthil, S; Sharma, S; Vishwakarma, S, 2021) |
| "The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al." | 1.48 | New ocular finding in Baraitser-Winter syndrome (BWS). ( Daroca, J; Gomez, R; Lacassie, Y; Leon, A; Rall, N, 2018) |
| "Both coloboma and optic disc pit are based on closure defects during week 6 of embryogenesis." | 1.46 | [Optic disc pit-associated maculopathy and iris-retinochoroidal-coloboma - a rare combination]. ( Feltgen, N; Hoerauf, H; Storch, M, 2017) |
| "Urrets-Zavalia syndrome is an uncommon complication of the deep anterior lamellar keratoplasty in keratoconus." | 1.43 | Urrets-Zavalia syndrome after deep anterior lamellar keratoplasty ( Jovanović, V; Nikolić, L, 2016) |
| "Patients' records were reviewed, and age, medical, surgical, and ocular history; gender; medications; and duration and dosage of tamsulosin were recorded." | 1.36 | The effect of alpha1-adrenergic receptor antagonist tamsulosin (Flomax) on iris dilator smooth muscle anatomy. ( Chang, DF; Destafeno, JJ; Kim, T; Proia, AD; Santaella, RM; Stinnett, SS, 2010) |
| "Tamsulosin was more effective than alfuzosin at blocking adrenergic contraction of the iris dilator muscle in pigmented rabbits." | 1.35 | Comparative effect of alfuzosin and tamsulosin on the contractile response of isolated rabbit prostatic and iris dilator smooth muscles: possible model for intraoperative floppy-iris syndrome. ( Chang, DF; Lluel, P; Palea, S; Regnier, A; Rekik, M, 2008) |
| "ICE syndrome is commonly progressive and frequently complicated by secondary glaucoma and corneal decompensation." | 1.34 | [Iridocorneal endothelial syndrome and glaucoma]. ( Denis, P, 2007) |
| "The floppy iris syndrome is likely to represent a continuum of severity." | 1.34 | Floppy iris behaviour during cataract surgery: associations and variations. ( Borooah, S; Chadha, V; Singh, J; Styles, C; Tey, A, 2007) |
| "Axenfeld-Rieger syndrome is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies." | 1.34 | [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. ( Kamińska, A; Pawluczyk-Dyjecińska, M; Sokołowska-Oracz, A; Szaflik, JP, 2007) |
| "Aniridic fibrosis syndrome is characterized by the development of a progressive anterior chamber fibrosis." | 1.33 | A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia. ( Chan, CC; Derby, EA; Freeman, JM; Holland, EJ; Petersen, MR; Schwartz, GS; Tsai, JH, 2005) |
| "Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia." | 1.33 | Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. ( Egel, RT; Hilchie-Schmidt, C; Howarth, RJ; Robinson, D; Ticho, BH; Traboulsi, EI, 2006) |
| "Fuchs' endothelial dystrophy was found in 19 patients." | 1.33 | A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. ( Baumer, A; Gloor, BP; Kniestedt, C; Stuermer, J; Taralczak, M; Thiel, MA, 2006) |
| "A girl with coloboma of the iris, sensorineural deafness, growth delay, distinctive face, and cranial nerve dysfunction was diagnosed of CHARGE association in the first year of life." | 1.32 | Hyper-IgM syndrome with CHARGE association. ( Aragón, P; Bahillo, P; Cambronero, R; Cantero, T; Gómez, S; Solís, P, 2003) |
| "Axenfeld-Rieger Syndrome is a disorder of morphogenesis which is autosomal dominantly inherited." | 1.32 | Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger's Syndrome. ( Karri, B; Kaye, SB; Sim, KT, 2004) |
| "PHACE Syndrome is a neurocutaneous disease spectrum encompassing the following features: Posterior fossa brain malformations, large facial Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities." | 1.32 | PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. ( Balashanmugan, A; Lasky, JB; Sandu, M, 2004) |
| "Rieger syndrome is a dysembryogenetic disease in which labyrinthic damage can be associated with other genetic anomalies." | 1.32 | Rieger syndrome: case report. ( Megighian, D; Poli, P; Savastano, M, 2003) |
| "Plateau iris syndrome is considered to be a rare entity and has been classified into two subtypes, the complete and the incomplete forms." | 1.32 | Incomplete and complete plateau iris syndrome. ( Kunjam, V; Onam, KS; Sekhar, GC, 2004) |
| "Rieger syndrome is a rare, autosomal dominant disorder due to developmental arrest of tissues derived from neural crest ectoderm in the third trimester." | 1.32 | The Rieger syndrome: orofacial manifestations. Case report of a rare condition. ( Lehl, G; Pannu, K; Singh, J, 2003) |
| "Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder that is characterized by anterior segment defects, glaucoma, and extraocular anomalies." | 1.31 | Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. ( Alward, WL; Betinjane, AJ; Borges, AS; Carani, JC; Nishimura, DY; Sheffield, VC; Stone, EM; Susanna, R, 2002) |
| "Rieger syndrome is an autosomal dominant condition characterized by a variable combination of anterior segment dysgenesis, dental anomalies, and umbilical hernia." | 1.31 | Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. ( Black, GC; Churchill, A; Clayton-Smith, J; Hanson, I; Kerr, B; Lloyd, IC; McKeown, C; Perveen, R; Super, M; Taylor, D; van Heyningen, V; Winter, R, 2000) |
| "Intraocular pressure was lowered, and visual field loss was stabilized with topical medications." | 1.31 | Unilateral glaucoma in Sotos syndrome (cerebral gigantism). ( Flynn, JT; Gedde, SJ; Yen, MT, 2000) |
| "Seven cases of ICE syndrome are reported, affecting 6 women and 1 man, with a mean age of 40 years." | 1.31 | [Iridocorneal endothelial syndrome. Series of 7 cases]. ( D'hermies, F; Halhal, M; Morel, X; Renard, G, 2001) |
| "Colobomatous microphthalmos is an infrequent ocular abnormality in the blepharophimosis syndrome." | 1.29 | Blepharophimosis syndrome: association with colobomatous microphthalmos. ( Lee, LR; Sullivan, TJ, 1995) |
| "This glaucoma is usually resistant to medical therapy and can lead to blindness." | 1.29 | Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). ( Alward, WL; Héon, E; Kalenak, JW; Sheffield, VC; Sheth, BP; Stone, EM; Streb, LM; Sunden, SL; Taylor, CM, 1995) |
| "One child had an iris coloboma." | 1.29 | Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? ( Barrow, M; Donnai, D, 1993) |
| "ICE syndrome is considered as unilateral, although cases of bilateral involvement of the same variant have been described." | 1.29 | Bilateral iridocorneal endothelial syndrome presented as Cogan-Reese and Chandler's syndrome. ( Barak, A; Huna, R; Melamed, S, 1996) |
| "Also this syndrome was considered to be related to Chandler's syndrome Clinically." | 1.28 | Iris nevus syndrome (report of 9 cases). ( Liu, Y; Pang, Y; Ye, T, 1991) |
| "The nodular iris nevi were found to consist of mainly integration of degenerated iris melanocytes and clump cells of Koganei." | 1.28 | [Iris nevus (Cogan-Reese) syndrome--clinicopathological correlations]. ( Egashira, J; Inomata, H; Ishimoto, S; Sakai, Y, 1990) |
| "In addition, there was cutaneous syndactyly and nail hypoplasia of the second and third fingers on the right and hypoplasia of the left second finger nail." | 1.28 | Limb anomalies in the CHARGE association. ( Meinecke, P; Polke, A; Schmiegelow, P, 1989) |
| "The exfoliation syndrome is thought to be a very rare disease in China." | 1.28 | Pseudoexfoliation syndrome in Chinese. ( Mao, WS; Ye, TC; Zhang, J, 1989) |
| "Association of imperforate anus and Hirschsprung's disease is rare, the incidence of both events occurring together would be one child out of every 25 million live births." | 1.27 | Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature. ( Mahboubi, S; Templeton, JM, 1984) |
| "Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad (WAGR) in the 11p13 band." | 1.27 | Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. ( Hamawaki, M; Kasai, R; Kikkawa, K; Kimira, S; Kimoto, H; Matsuoka, K; Narahara, K; Ogata, M, 1984) |
| "The chromosomal origin of nephroblastoma may be more frequent than estimated on the basis of its association with aniridia." | 1.27 | Del11p13/nephroblastoma without aniridia. ( Chavin-Colin, F; de Grouchy, J; Dufier, JL; Junien, C; Nihoul-Fékété, C; Turleau, C, 1984) |
| "In addition to acronymic features of Coloboma, Heart disease, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetency." | 1.27 | The spectrum of clinical features in CHARGE syndrome. ( Davenport, SL; Hefner, MA; Mitchell, JA, 1986) |
| " The chromosomic micro-deletion can be shown by using highly sophisticated cytogenetic techniques, or suspected by blood enzymatic dosage (mainly catalase)." | 1.27 | [WAGR syndrome, Wilms' tumor, aniridia, gonadoblastoma, mental retardation: a review apropos of 2 cases]. ( Blanc, JF; Mochon, MC; Philip, T; Plauchu, H, 1987) |
| "Two of the children, one with a coloboma and one without, are from the same consanguineous pedigree." | 1.27 | Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. ( Brett, EM; Hurst, JA; Kumar, D; Markiewicz, M, 1988) |
| "Partial coloboma, observed only with transillumination techniques, occur in 16% of male patients diagnosed with Kallmann syndrome." | 1.27 | Ophthalmic midline dysgenesis in Kallmann syndrome. ( Currie, J; Jaffe, MJ; Schwankhaus, JD; Sherins, RJ, 1987) |
| "In the brother there is an incomplete coloboma of the optic nerve head, in the sister a coloboma of the iris, optic nerve head, choroid, and retina." | 1.27 | [Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome]. ( Mayer, U; Pfeiffer, RA, 1987) |
| "A 4-year-old male child had coloboma of the iridochoroid, cleft soft palate, hypertelorism with an antimongoloid slant of the eyes, epicanthal folds, hearing deficit, congenital heart disease (pulmonary arteriovenous fistula), mental and growth retardation, and a 47,XY + marker chromosome." | 1.27 | Cat's eye syndrome with cleft soft palate. ( Nakamura, K, 1985) |
| "The Rieger syndrome is a rare, autosomal dominant disorder." | 1.27 | Oral manifestations of the Rieger syndrome: report of case. ( Drum, MA; Guckes, AD; Kaiser-Kupfer, MI; Roberts, MW, 1985) |
| "The first child had a large basal encephalocele, agenesis of the corpus callosum, mild optic atrophy in one eye, a retinal pigment epithelial defect in the other eye and bitemporal hemianopia; the second child had septo-optic dysplasia and the third child had Rieger's anomaly." | 1.26 | Ocular defects and short stature. ( Guyda, HJ; Little, JM; Polomeno, RC; Staudenmaier, C, 1980) |
| "The syndrome was found at an increase frequency in cases of nuclear cataract and in case where cataract was extracted by cryo-extraction." | 1.26 | [Irvine-Gass syndrome. Statistical and angiographic study]. ( Baltazis, S; Theodossiadis, G; Velissaropoulos, P, 1976) |
| "Medical treatment of the glaucoma was successful." | 1.26 | Rieger's anomaly with congenital glaucoma a case presentation of postnatal anterior segment maturation. ( Leib, ML; Little, JM; Saheb, NN, 1979) |
| "A 23-year-old-woman had iris-nevus (Cogan-Reese) syndrome characterized by unilateral glaucoma with peripheral anterior synechiae, multiple iris nodules, and ectopic Descemet's membrane." | 1.26 | Histopathology in the iris-nevus (Cogan-Reese) syndrome. ( Herschler, J; Radius, RL, 1980) |
| "The iris naevus syndrome is now thought to represent one end of the clinical spectrum of an iridocorneal endothelial syndrome which also includes those clinical entities classified previously as Chandler's syndrome and essential iris atrophy." | 1.26 | The iris naevus (Cogan-Reese) syndrome: light and electron microscopic observations. ( Eagle, RC; Fine, BS; Font, RL; Yanoff, M, 1980) |
| "Whenever a patient with suspected iris nevus syndrome or essential iris atrophy is subjected to glaucoma surgery, a biopsy specimen of the iris should be obtained for histological study." | 1.25 | Iris nevus (Cogan-Reese) syndrome. A cause of unilateral glaucoma. ( Scheie, HG; Yanoff, M, 1975) |
| "The existence of a trisomy 22 has been definitely established by newer methods of karyotype analysis which permit distinction between the acrocentric chromosomes of group G." | 1.25 | Trisomy 22. ( Ionasescu, V; Simpson, J; Zellweger, H, 1975) |
| "The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation." | 1.25 | Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case. ( Duenas, D; Hiatt, RL; Johnson, WW; Summitt, RL, 1971) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 280 (55.34) | 18.7374 |
| 1990's | 76 (15.02) | 18.2507 |
| 2000's | 99 (19.57) | 29.6817 |
| 2010's | 40 (7.91) | 24.3611 |
| 2020's | 11 (2.17) | 2.80 |
| Authors | Studies |
|---|---|
| Maluskova, M | 1 |
| Vidlar, A | 1 |
| Maresova, K | 1 |
| Lounova, V | 1 |
| Karhanova, M | 1 |
| Hallali, G | 3 |
| Aubert, T | 3 |
| Souied, EH | 3 |
| Glacet-Bernard, A | 3 |
| Cam, F | 1 |
| Celiker, H | 1 |
| Lončarić, K | 1 |
| Tadić, R | 1 |
| Radmilović, M | 1 |
| Vatavuk, Z | 1 |
| Li, Y | 1 |
| Liu, J | 1 |
| Tian, Q | 1 |
| Ma, X | 1 |
| Zhao, Y | 1 |
| Bi, H | 1 |
| Safir, M | 1 |
| Greenbaum, E | 1 |
| Vardi, MA | 1 |
| Friehman, A | 1 |
| Pras, E | 1 |
| Assia, EI | 1 |
| Sharon, T | 1 |
| Spitznagel, K | 1 |
| Sadar, MJ | 1 |
| Terhaar, H | 1 |
| Brandao, J | 1 |
| Teixeira, L | 1 |
| de Linde Henriksen, M | 1 |
| Mylona, I | 1 |
| Dermenoudi, M | 1 |
| Ziakas, N | 1 |
| Tsinopoulos, I | 1 |
| Zubicoa, A | 2 |
| Echeverria-Palacios, M | 1 |
| Mozo Cuadrado, M | 1 |
| Compains Silva, E | 1 |
| Senthil, S | 1 |
| Sharma, S | 1 |
| Vishwakarma, S | 1 |
| Kaur, I | 1 |
| Sakaguchi, Y | 1 |
| Yoshihashi, H | 1 |
| Uehara, T | 1 |
| Miyama, S | 1 |
| Kosaki, K | 1 |
| Takenouchi, T | 1 |
| Rall, N | 1 |
| Leon, A | 1 |
| Gomez, R | 1 |
| Daroca, J | 1 |
| Lacassie, Y | 1 |
| Bhattacharjee, S | 1 |
| Tabatabaei, SA | 1 |
| Salabati, M | 1 |
| Soleimani, M | 1 |
| Jovanović, V | 1 |
| Nikolić, L | 1 |
| Plaza-Ramos, P | 1 |
| Heras-Mulero, H | 1 |
| Fanlo, P | 1 |
| Kaczmarek, IA | 1 |
| Prost, ME | 1 |
| Wasyluk, J | 1 |
| Midha, N | 1 |
| Hoskens, K | 1 |
| Mansouri, K | 1 |
| Hernández Pardines, F | 1 |
| Serra Verdú, MC | 1 |
| Font Juliá, E | 1 |
| Molina Martin, JC | 1 |
| Aounzou, S | 1 |
| Chraibi, F | 1 |
| El Bahloul, M | 1 |
| El Abdellaoui, M | 1 |
| Benatiya Andaloussi, I | 1 |
| Tahri, H | 1 |
| Mayer, CS | 1 |
| Laubichler, AE | 1 |
| Masyk, M | 1 |
| Prahs, P | 1 |
| Zapp, D | 1 |
| Khoramnia, R | 1 |
| Pathak Ray, V | 1 |
| Puri, V | 1 |
| Peguda, HK | 1 |
| Rao, DP | 1 |
| Chandran, P | 1 |
| Chermakani, P | 1 |
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| Inomata, H | 2 |
| Natacci, F | 1 |
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| Larizza, L | 1 |
| Palmberg, P | 1 |
| Massicotte, EC | 1 |
| Schuman, JS | 1 |
| Diaconu, E | 1 |
| Măcelaru, D | 1 |
| Mielke, BC | 1 |
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| Pavlin, CJ | 1 |
| Foster, FS | 1 |
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| Majewski, F | 2 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Short-term Outcomes of Iridoplasty for Persistent Angle Closure Despite Patent Iridotomies An Anterior Segment Optical Coherence Tomography Study[NCT02199158] | 10 participants (Actual) | Interventional | 2012-07-31 | Completed | |||
| Pigment Dispersion Syndrome With and Without Glaucoma[NCT00001152] | 175 participants | Observational | 1976-06-30 | Completed | |||
| Optical Low Coherence Reflectometry Enables Preoperative Detection of Zonular Weakness in Pseudoexfoliation Syndrome[NCT01298895] | 224 participants (Actual) | Observational | 2009-01-31 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
35 reviews available for 2-propanol and Syndrome
| Article | Year |
|---|---|
Floppy iris syndrome associated with specific medication intake: A narrative review.
Topics: Adrenergic alpha-Antagonists; Cataract; Humans; Intraoperative Complications; Iris; Iris Diseases; P | 2023 |
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Cerebellum; Choroid; Coloboma; Craniofacial Abnorm | 2021 |
Pigment dispersion syndrome and pigmentary glaucoma--a major review.
Topics: Anterior Chamber; Eye Neoplasms; Glaucoma, Open-Angle; Gonioscopy; Humans; Intraocular Pressure; Iri | 2008 |
Oral findings in Midline Syndrome: a case report and literature review.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child; Cleft Palate; Coloboma; Encephalocele; | 2010 |
Fuchs Uveitis Syndrome in the developing world.
Topics: Anterior Chamber; Developing Countries; Diagnosis, Differential; Diagnostic Techniques, Ophthalmolog | 2010 |
Risk factors for intraoperative floppy iris syndrome: a meta-analysis.
Topics: Adrenergic alpha-1 Receptor Antagonists; Diabetes Complications; Doxazosin; Humans; Hypertension; In | 2011 |
Infectious theories of Posner-Schlossman syndrome.
Topics: Bacteria; Diagnosis, Differential; DNA, Viral; Eye Infections, Bacterial; Eye Infections, Viral; Gla | 2011 |
Physiological role of collagen XVIII and endostatin.
Topics: Aging; Animals; Basement Membrane; Blindness; Ciliary Body; Collagen Type XVIII; Encephalocele; Endo | 2005 |
Evaluation and management of plateau iris syndrome: case report and review.
Topics: Anterior Chamber; Humans; Intraocular Pressure; Iridectomy; Iris; Iris Diseases; Male; Middle Aged; | 2005 |
Recent advances in cytogenetics.
Topics: Chromosome Banding; Chromosome Deletion; Chromosome Fragility; Cytogenetics; DiGeorge Syndrome; Flow | 1983 |
[Clinical picture and treatment of hemorrhagic glaucoma].
Topics: Diabetic Retinopathy; Diagnosis, Differential; Eye Diseases; Glaucoma; Hemorrhage; Humans; Iris; Met | 1982 |
[Paradoxical oculo-palpebral motility and related syndromes].
Topics: Electromyography; Eye Movements; Humans; Iris; Muscles; Ophthalmoplegia; Pupil; Syndrome | 1980 |
Rieger's syndrome: a case report.
Topics: Abnormalities, Multiple; Anodontia; Child; Facial Bones; Female; Humans; Hypertelorism; Iris; Radiog | 1997 |
Cardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity?
Topics: Abnormalities, Multiple; Anterior Eye Segment; Aortic Valve Stenosis; Child; Face; Humans; Iris; Mal | 1998 |
Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Echocardiography; Eye Abnormalities; Face; Fem | 2000 |
Axenfeld-Rieger syndrome in the age of molecular genetics.
Topics: Anterior Eye Segment; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 4; Chromosomes, Human, P | 2000 |
Phenotypic variability of Cat-Eye syndrome.
Topics: Abnormalities, Multiple; Adult; Anal Canal; Chromosome Inversion; Chromosomes, Human, Pair 22; Colob | 2001 |
[Rieger syndrome].
Topics: Abnormalities, Multiple; Coloboma; Eye Abnormalities; Humans; Iris; Syndrome | 2001 |
Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, Pair 22; Coloboma; Craniofacial Abnormalities; F | 2001 |
Axenfeld-Rieger and iridocorneal endothelial syndromes: two spectra of disease with striking similarities and differences.
Topics: Cornea; Corneal Diseases; Diagnosis, Differential; Endothelium, Corneal; Eye Abnormalities; Humans; | 2001 |
[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].
Topics: Abnormalities, Multiple; Alkaline Phosphatase; Anus, Imperforate; Autoradiography; Child, Preschool; | 1975 |
Neoplasia of early life and its relationships to teratogenesis.
Topics: Abnormalities, Drug-Induced; Carcinoma, Basal Cell; Chromosome Aberrations; Chromosome Disorders; Co | 1976 |
Penetrance and variability in anterior chamber malformations.
Topics: Anterior Chamber; Chromosomes, Human, 13-15; Chromosomes, Human, 16-18; Corneal Opacity; Descemet Me | 1979 |
Hereditary forms of growth hormone deficiency and resistance.
Topics: Abnormalities, Multiple; Africa; Anencephaly; Animals; Brain; Cleft Lip; Cleft Palate; Drug Resistan | 1976 |
[Uveopathies, early diagnosis and treatment (survey of Soviet and foreign literature)].
Topics: Cataract; Cataract Extraction; Eye Diseases; Glaucoma; Gonioscopy; Humans; Hypothalamic Diseases; Ir | 1975 |
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.
Topics: Abnormalities, Multiple; Cerebellum; Cleft Palate; Coloboma; Hearing Loss; Hearing Loss, Bilateral; | 1991 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
Topics: Abnormalities, Multiple; Blepharoptosis; Child; Chromosome Aberrations; Chromosome Disorders; Chromo | 1991 |
Postsympathectomy pain and changes in sensory neuropeptides: towards an animal model.
Topics: Animals; Calcitonin Gene-Related Peptide; Iris; Lumbosacral Region; Nerve Fibers; Nerve Growth Facto | 1985 |
Contiguous gene syndromes: a component of recognizable syndromes.
Topics: Beckwith-Wiedemann Syndrome; Child; Chromosome Aberrations; Chromosome Disorders; Chromosome Mapping | 1986 |
[Heterochromia complicata Fuchs].
Topics: Adult; Cataract; Eye Color; Eye Diseases; Female; Glaucoma; Humans; Iris; Male; Middle Aged; Syndrom | 1988 |
[Iridocorneotrabecular dysgenesis in a patient sample of the Münster University Eye Clinic].
Topics: Cornea; Glaucoma; Humans; Infant; Iris; Syndrome; Trabecular Meshwork | 1988 |
Microcytogenetics 1984.
Topics: Beckwith-Wiedemann Syndrome; Brain; Chromosome Aberrations; Cytogenetics; DiGeorge Syndrome; Exostos | 1986 |
Ectopia lentis in systemic heritable disorders.
Topics: Abnormalities, Multiple; Body Constitution; Dwarfism; Ehlers-Danlos Syndrome; Elbow; Female; Fingers | 1974 |
The phakomatoses.
Topics: Angiomatosis; Anterior Chamber; Arteriovenous Fistula; Ataxia Telangiectasia; Brain Neoplasms; Choro | 1972 |
[Ocular signs of trisomy 13. General review].
Topics: Anterior Chamber; Brain; Cataract; Child; Child, Preschool; Choroid; Chromosome Aberrations; Chromos | 1971 |
1 trial available for 2-propanol and Syndrome
| Article | Year |
|---|---|
In vivo analysis and comparison of anterior segment structures of both eyes in unilateral Fuchs' uveitis syndrome.
Topics: Adolescent; Adult; Anterior Eye Segment; Cell Count; Chronic Disease; Endothelium, Corneal; Female; | 2019 |
470 other studies available for 2-propanol and Syndrome
| Article | Year |
|---|---|
Lens-Iris diaphragm retropulsion syndrome: Risk factors and management. A prospective study.
Topics: Cataract Extraction; Humans; Intraoperative Complications; Iris; Pain; Phacoemulsification; Postoper | 2023 |
Lens-Iris diaphragm retropulsion syndrome: Risk factors and management. A prospective study.
Topics: Cataract Extraction; Humans; Intraoperative Complications; Iris; Pain; Phacoemulsification; Postoper | 2023 |
Lens-Iris diaphragm retropulsion syndrome: Risk factors and management. A prospective study.
Topics: Cataract Extraction; Humans; Intraoperative Complications; Iris; Pain; Phacoemulsification; Postoper | 2023 |
Lens-Iris diaphragm retropulsion syndrome: Risk factors and management. A prospective study.
Topics: Cataract Extraction; Humans; Intraoperative Complications; Iris; Pain; Phacoemulsification; Postoper | 2023 |
Bilateral acute iris transillumination syndrome after SARS-CoV-2 infection: A case report.
Topics: COVID-19; Humans; Iris; Iris Diseases; SARS-CoV-2; Syndrome; Transillumination | 2023 |
Bilateral Acute Iris Transillumination (BAIT): A Rare Syndrome Possibly Associated with COVID-19 and Moxifloxacin Use. A Report of 2 Cases.
Topics: COVID-19; Glaucoma; Humans; Iris; Iris Diseases; Moxifloxacin; Syndrome; Transillumination | 2023 |
Axenfeld-Rieger syndrome combined with ectropion uveae and pigment dispersion syndrome: A case report.
Topics: Adult; Corneal Diseases; Ectropion; Eye Abnormalities; Female; Glaucoma; Humans; Iris; Iris Diseases | 2023 |
Iris color as a predictive factor for intraoperative floppy iris syndrome.
Topics: Aged; Aged, 80 and over; Cataract; Color; Female; Humans; Intraoperative Complications; Iris; Iris D | 2023 |
Iridial melanocytoma in a ferruginous hawk (Buteo regalis): A case report and review of avian melanocytic neoplasia.
Topics: Animals; Eye Neoplasms; Female; Hawks; Iris; Retinal Neoplasms; Syndrome | 2023 |
Increased pupil diameter is a protective factor against intraoperative floppy-iris syndrome.
Topics: Adrenergic alpha-Agonists; Aged; Aged, 80 and over; Epinephrine; Female; Humans; Injections, Intraoc | 2020 |
Unilateral acute iris transillumination like syndrome following intracameral moxifloxacin injection.
Topics: Anti-Bacterial Agents; Humans; Iris; Male; Middle Aged; Moxifloxacin; Syndrome; Transillumination | 2022 |
A novel mutation in the aspartate beta-hydroxylase (
Topics: Adolescent; Adult; Calcium-Binding Proteins; Case-Control Studies; Craniofacial Abnormalities; Ectop | 2021 |
New ocular finding in Baraitser-Winter syndrome (BWS).
Topics: Actins; Child, Preschool; Coloboma; Craniofacial Abnormalities; Female; Humans; Intellectual Disabil | 2018 |
B-HEX pupil expander: Pupil expansion redefined.
Topics: Cataract; Equipment Design; Humans; Iris; Lens Implantation, Intraocular; Miosis; Phacoemulsificatio | 2017 |
Urrets-Zavalia Like Syndrome, as a Complication of Sickle Cell Disease.
Topics: Adult; Anemia, Sickle Cell; Female; Fluorescein Angiography; Fundus Oculi; Glaucoma; Humans; Intraoc | 2019 |
Urrets-Zavalia syndrome after deep anterior lamellar keratoplasty
Topics: Atrophy; Corneal Transplantation; Glaucoma; Humans; Iris; Iris Diseases; Keratoconus; Male; Mydriasi | 2016 |
Bilateral acute iris transillumination syndrome. A case report.
Topics: Acute Disease; Anti-Bacterial Agents; Diagnostic Errors; Female; Glaucoma, Open-Angle; Humans; Iris; | 2018 |
Clinical risk factors associated with intraoperative floppy iris syndrome: a prospective study.
Topics: 5-alpha Reductase Inhibitors; Adrenergic alpha-1 Receptor Antagonists; Age Factors; Aged; Aged, 80 a | 2019 |
Pattern Scanning Laser (PASCAL) for Peripheral Iridoplasty in Eyes With Plateau Iris Syndrome: A Novel Application.
Topics: Aged; Female; Follow-Up Studies; Glaucoma, Angle-Closure; Gonioscopy; Humans; Intraocular Pressure; | 2018 |
Aqueous humor misdirection syndrome after glaucoma filtering surgery in patient with bilateral acute iris transillumination (BAIT) syndrome.
Topics: Anti-Inflammatory Agents; Aqueous Humor; Atrophy; Combined Modality Therapy; Female; Glaucoma Draina | 2018 |
[Urrets-Zavalia syndrome post keratoplasty, keratoconus and achondroplasia: Is there a link?]
Topics: Achondroplasia; Adult; Atrophy; Corneal Transplantation; Glaucoma; Humans; Iris; Iris Diseases; Kera | 2018 |
Residual Iris Retraction Syndrome After Artificial Iris Implantation.
Topics: Adult; Aged; Artificial Organs; Cell Count; Endothelium, Corneal; Eye Color; Female; Gonioscopy; Hum | 2019 |
Intra-operative ASOCT determined changes in angle recess in plateau iris syndrome post phaco alone and post phaco-endocycloplasty.
Topics: Anterior Chamber; Cataract; Ciliary Body; Female; Glaucoma, Angle-Closure; Gonioscopy; Humans; Intra | 2019 |
A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome.
Topics: Adult; Base Pairing; Calcium-Binding Proteins; Craniofacial Abnormalities; Ectopia Lentis; Exons; Ge | 2019 |
[Is prophylactic YAG iridotomy useful in pigment dispersion syndrome?].
Topics: Evidence-Based Medicine; Exfoliation Syndrome; Filtering Surgery; Glaucoma, Open-Angle; Humans; Iris | 2013 |
Iris coloboma in one eye and pigment dispersion syndrome in the fellow eye.
Topics: Adult; Anterior Chamber; Choroid; Ciliary Body; Coloboma; Female; Humans; Iris; Iris Diseases; Pigme | 2013 |
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Topics: Amino Acid Sequence; Animals; Anterior Eye Segment; Calcium-Binding Proteins; Craniofacial Abnormali | 2014 |
Clinical manifestation of Fuchs uveitis syndrome in childhood.
Topics: Adolescent; Adult; Atrophy; Cataract; Child; Child, Preschool; Chronic Disease; Female; Fuchs' Endot | 2015 |
Bilateral Acute Iris Transillumination: A Rare Cause of Iris Atrophy. Report of 2 Cases.
Topics: Aged; Atrophy; Diagnosis, Differential; Female; Humans; Iris; Iris Diseases; Middle Aged; Syndrome; | 2015 |
Laser iridotomy to treat uveitis-glaucoma-hyphema syndrome secondary to reverse pupillary block in sulcus-placed intraocular lenses: Case series.
Topics: Adult; Aged; Axial Length, Eye; Female; Glaucoma; Gonioscopy; Humans; Hyphema; Iridectomy; Iris; Las | 2015 |
Urrets-Zavalia syndrome after implantable Collamer lens placement.
Topics: Adult; Astigmatism; Atrophy; Female; Humans; Iris; Lens Implantation, Intraocular; Myopia; Ocular Hy | 2015 |
[Optic disc pit-associated maculopathy and iris-retinochoroidal-coloboma - a rare combination].
Topics: Adult; Central Serous Chorioretinopathy; Choroid; Coloboma; Female; Fluorescein Angiography; Follow- | 2017 |
Intraoperative floppy iris syndrome and its association with various concurrent medications, bulbus length, patient age and gender.
Topics: Adrenergic alpha-1 Receptor Antagonists; Age Factors; Aged; Austria; Cataract Extraction; Female; Fo | 2017 |
Uveitis-glaucoma-hyphaema (UGH) syndrome treated with local laser iridoplasty.
Topics: Argon Plasma Coagulation; Glaucoma; Humans; Hyphema; Iris; Laser Therapy; Male; Middle Aged; Pseudop | 2017 |
Ophthalmological aspects of Pierson syndrome.
Topics: Abnormalities, Multiple; Eye Abnormalities; Female; Humans; Infant, Newborn; Iris; Laminin; Male; Mu | 2008 |
Harlequin syndrome: still only half understood.
Topics: Autonomic Nervous System Diseases; Carotid Artery, External; Face; Ganglia, Sympathetic; Horner Synd | 2008 |
Iris naevus (Cogan-Reese) syndrome.
Topics: Eye Neoplasms; Female; Humans; Iris; Middle Aged; Nevus; Syndrome | 2008 |
Urrets-Zavalia syndrome following iris-claw phakic intraocular lens implantation.
Topics: Adult; Corneal Topography; Female; Humans; Intraocular Pressure; Iris; Lens Implantation, Intraocula | 2008 |
Progression of essential iris atrophy studied with confocal microscopy and ultrasound biomicroscopy: a 5-year case report.
Topics: Atrophy; Corneal Diseases; Disease Progression; Endothelium, Corneal; Female; Humans; Iris; Iris Dis | 2009 |
Factors associated with intraoperative floppy iris syndrome.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Aged; Aged, 80 and over; Fema | 2009 |
Iris morphologic changes related to alpha(1)-adrenergic receptor antagonists implications for intraoperative floppy iris syndrome.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Aged; Cross-Sectional Studies | 2009 |
Urrets-Zavalia syndrome following iatrogenic pupil dilation in eyes with pigment dispersion.
Topics: Adult; Anterior Chamber; Atrophy; Cyclopentolate; Dexamethasone; Exfoliation Syndrome; Female; Glauc | 2009 |
Uveitis-glaucoma-hyphema syndrome and corneal decompensation in association with cosmetic iris implants.
Topics: Adult; Corneal Edema; Device Removal; Glaucoma; Humans; Hyphema; Intraocular Pressure; Iris; Male; P | 2009 |
Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Eye Abnormalities; Eye Proteins; Face; Gene Deletion; | 2009 |
[Ocular melanocytosis and delayed psycho-intellectual development--other association?].
Topics: Child; Developmental Disabilities; Diagnosis, Differential; Humans; Iris; Iris Neoplasms; Male; Nevu | 2009 |
Intraoperative floppy iris syndrome: pathophysiology, prevention, and treatment.
Topics: Adrenergic alpha-Antagonists; Animals; Autonomic Agents; Cataract Extraction; Humans; Intraoperative | 2009 |
[Comparison of optical coherence tomography and ultrasound biomicroscopy for detection of plateau iris].
Topics: Anterior Chamber; Ciliary Body; Cornea; Gonioscopy; Humans; Iris; Iris Diseases; Microscopy, Acousti | 2010 |
The effect of alpha1-adrenergic receptor antagonist tamsulosin (Flomax) on iris dilator smooth muscle anatomy.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Aged; Aged, 80 and over; Anth | 2010 |
Health supplement associated with intraoperative floppy-iris syndrome.
Topics: Antioxidants; Cataract Extraction; Choline; Dietary Supplements; Female; Humans; Intraoperative Comp | 2010 |
Urrets-Zavalia syndrome following Descemet's stripping endothelial keratoplasty triple procedure.
Topics: Aged; Atrophy; Atropine; Cataract; Cyclopentolate; Descemet Stripping Endothelial Keratoplasty; Foll | 2011 |
Intraoperative floppy iris syndrome: report of a case and histopathologic analysis.
Topics: Actins; Adrenergic alpha-1 Receptor Antagonists; Aged, 80 and over; Humans; Intraoperative Complicat | 2010 |
Axenfeld's anomaly.
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Eye Abnormalities; Eye Diseases, Hereditary; F | 2010 |
Tamsulosin and iris pigmentation.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Anthropometry; Cataract Extra | 2010 |
Pigment dispersion syndrome masquerading as acute anterior uveitis.
Topics: Acute Disease; Adult; Diagnosis, Differential; Female; Gonioscopy; Humans; Iris; Male; Pigmentation | 2011 |
A single-base substitution in the seed region of miR-184 causes EDICT syndrome.
Topics: Cataract; Corneal Dystrophies, Hereditary; Corneal Stroma; Endothelium, Corneal; Eye Abnormalities; | 2012 |
Surgical and visual outcomes of the type I Boston Keratoprosthesis for the management of aniridic fibrosis syndrome in congenital aniridia.
Topics: Adolescent; Adult; Aged; Aniridia; Artificial Organs; Cataract Extraction; Child; Cornea; Female; Fi | 2012 |
[Ocular ischemic syndrome with rubeosis iridis].
Topics: Diabetes Mellitus, Type 2; Diabetic Angiopathies; Diabetic Retinopathy; Eye Diseases; Fluorescein An | 2012 |
Treatment of late-onset capsular distension syndrome with a neodymium:YAG laser peripheral iridotomy and anterior capsulotomy.
Topics: Capsulorhexis; Dilatation, Pathologic; Humans; Iridectomy; Iris; Laser Therapy; Lasers, Solid-State; | 2012 |
Effects of tamsulosin and silodosin on isolated albino and pigmented rabbit iris dilators: possible mechanism of intraoperative floppy-iris syndrome.
Topics: Adrenergic alpha-1 Receptor Agonists; Adrenergic alpha-1 Receptor Antagonists; Animals; Dose-Respons | 2012 |
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Anterior Eye Segment; Cataract; Chromosome Mapping; Chro | 2002 |
First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.
Topics: Adult; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 20; Coloboma; DNA Mutational A | 2002 |
Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).
Topics: Abnormalities, Multiple; Adolescent; Chromosome Deletion; Chromosomes, Human, Pair 22; Coloboma; Fem | 2002 |
Iridociliary apposition in plateau iris syndrome persists after cataract extraction.
Topics: Aged; Aged, 80 and over; Anterior Eye Segment; Ciliary Body; Glaucoma, Angle-Closure; Humans; Iris; | 2003 |
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Anterior Eye Segment; Child; Corneal Opacity; DNA | 2003 |
Bilaminar interepithelial bodies within fingerprint dystrophy-like changes in bilateral iridocorneal endothelial syndrome.
Topics: Atrophy; Corneal Diseases; Endothelium, Corneal; Humans; Iris; Iris Diseases; Male; Middle Aged; Syn | 2003 |
Congenital iridocorneal malformation in Rieger syndrome.
Topics: Child; Ciliary Body; Cornea; Cryotherapy; Eye Abnormalities; Humans; Intraocular Pressure; Iris; Mal | 2003 |
Psoriasis with pigment dispersion syndrome: report of two cases.
Topics: Adult; Cornea; Female; Follow-Up Studies; Glaucoma; Humans; Hyperpigmentation; Iris; Male; Psoriasis | 2003 |
A new syndrome of hereditary congenital corneal opacities, cornea guttata, and corectopia.
Topics: Adolescent; Adult; Corneal Opacity; Descemet Membrane; Eye Abnormalities; Eye Diseases, Hereditary; | 2003 |
Iridociliary apposition in plateau iris syndrome persists after cataract extraction.
Topics: Anterior Eye Segment; Ciliary Body; Humans; Iris; Iris Diseases; Laser Therapy; Phacoemulsification; | 2003 |
Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Eye Abnormalities; Female; Follow-Up Studies; | 2003 |
[Coloboma of the eyeball and a syndrome involving the iris].
Topics: Bone and Bones; Coloboma; Congenital Abnormalities; Eye Abnormalities; Humans; Iris; Syndrome | 1953 |
[Biemond's syndrome in relatives with coloboma of the iris, coxofemoral dysplasia and epilepsy].
Topics: Abnormalities, Multiple; Coloboma; Epilepsy; Hip; Humans; Iris; Iris Diseases; Syndrome | 1960 |
[IRIDO-PUPILLAR ANOMALIES AND CONJUNCTIVAL XEROSIS. A NEW SYNDROME].
Topics: Child; Congenital Abnormalities; Humans; Infant; Iris; Keratoconjunctivitis Sicca; Pupil; Syndrome; | 1963 |
[APROPOS OF THE BILATERALITY OF FUCHS' SYNDROME].
Topics: Cataract; Corneal Dystrophies, Hereditary; Humans; Iris; Syndrome | 1964 |
[A curious syndrome: deaf-mutism, iridal heterochromia and epilepsy].
Topics: Deafness; Epilepsy; Eye Abnormalities; Humans; Iris; Iris Diseases; Medical Records; Syndrome; Trite | 1959 |
Chronic angle closure glaucoma secondary to frail zonular fibres and spherophakia.
Topics: Adult; Chronic Disease; Ciliary Body; Female; Glaucoma, Angle-Closure; Gonioscopy; Hand Deformities, | 2003 |
Hyper-IgM syndrome with CHARGE association.
Topics: Abnormalities, Multiple; Child, Preschool; Choanal Atresia; Coloboma; Cranial Nerve Diseases; Face; | 2003 |
Long-term success of argon laser peripheral iridoplasty in the management of plateau iris syndrome.
Topics: Aged; Anterior Eye Segment; Female; Follow-Up Studies; Glaucoma, Angle-Closure; Gonioscopy; Humans; | 2004 |
A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.
Topics: Eyebrows; Eyelids; Hair; Humans; Iris; Nose; Syndrome | 1951 |
The Rieger syndrome: orofacial manifestations. Case report of a rare condition.
Topics: Adult; Denture, Partial, Fixed; Eye Abnormalities; Glaucoma; Humans; Iris; Male; Maxilla; Retrognath | 2003 |
[Juvenile glaucoma, cataract and tooth abnormalities in a young patient].
Topics: Abnormalities, Multiple; Adult; Cataract; Cataract Extraction; Cornea; Glaucoma; Humans; Iris; Male; | 2005 |
Incomplete and complete plateau iris syndrome.
Topics: Anterior Eye Segment; Ciliary Body; Glaucoma, Angle-Closure; Humans; Intraocular Pressure; Iridectom | 2004 |
Rieger syndrome: case report.
Topics: Adult; Atrophy; Audiometry, Pure-Tone; Auditory Threshold; Brain Stem; Ear, Inner; Eye Abnormalities | 2003 |
Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder.
Topics: Adult; Bone and Bones; Eye Abnormalities; Facies; Female; Genes, Recessive; Glaucoma; Humans; Iris; | 2004 |
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray.
Topics: Abnormalities, Multiple; Anodontia; Anterior Eye Segment; Cell Line; Chromosome Aberrations; Chromos | 2004 |
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
Topics: Adolescent; Cataract; Cataract Extraction; Child; Child, Preschool; Cornea; Craniofacial Abnormaliti | 2004 |
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Adult; Anodontia; Anterior Eye Segment; DNA Mutational Analysis; Exons; Fem | 2004 |
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect.
Topics: Abnormalities, Multiple; Aortic Coarctation; Coloboma; Facial Neoplasms; Female; Fetal Blood; Hemang | 2004 |
Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger's Syndrome.
Topics: Abnormalities, Multiple; Adolescent; Anodontia; Eye Abnormalities; Female; Humans; Iris; Maxilla; Sk | 2004 |
PITX2 gain-of-function in Rieger syndrome eye model.
Topics: Alleles; Animals; Blotting, Southern; Chromosome Mapping; Collagen; Cornea; Disease Models, Animal; | 2004 |
Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome.
Topics: Abnormalities, Multiple; Alveolar Process; Child, Preschool; Hand Deformities, Congenital; Humans; I | 2005 |
Argon laser iridoplasty in the treatment of plateau-like iris configuration as result of numerous ciliary body cysts.
Topics: Adult; Ciliary Body; Cysts; Glaucoma, Angle-Closure; Humans; Intraocular Pressure; Iridectomy; Iris; | 2005 |
Intracameral phenylephrine to prevent floppy iris syndrome during cataract surgery in patients on tamsulosin.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Aged; Aged, 80 and over; Cata | 2007 |
Bilateral complete isolated cryptophthalmos: a case report.
Topics: Abnormalities, Multiple; Ciliary Body; Eye Abnormalities; Eyelids; Female; Humans; Infant, Newborn; | 2005 |
Ultrasound biomicroscopy of Chinese eyes with iridocorneal endothelial syndrome.
Topics: Adult; Aged; Aged, 80 and over; Anterior Chamber; Corneal Edema; Endothelium, Corneal; Female; Glauc | 2006 |
A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia.
Topics: Adolescent; Adult; Aged; Aniridia; Anterior Chamber; Child; Disease Progression; Female; Fibrosis; H | 2005 |
Iris reconstruction with a multipiece endocapsular prosthesis in iridocorneal endothelial syndrome.
Topics: Adult; Atrophy; Capsulorhexis; Corneal Diseases; Endothelium, Corneal; Female; Humans; Iris; Iris Di | 2005 |
Cataract surgery may be complicated by prostate drugs.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Cataract Extraction; Humans; | 2006 |
Intraoperative floppy iris syndrome in a patient taking alfuzosin for benign prostatic hypertrophy.
Topics: Adrenergic alpha-Antagonists; Aged, 80 and over; Cataract Extraction; Humans; Intraoperative Complic | 2006 |
[Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension].
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosomes, Human, Pair 13; Diagnosis, Differentia | 2006 |
Toxic anterior segment syndrome after Verisyse iris-supported phakic intraocular lens implantation.
Topics: Adult; Anterior Eye Segment; Corneal Edema; Endophthalmitis; Female; Humans; Iris; Lens Implantation | 2006 |
A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Case-Control Studies; Cell Count; Child; Child, Preschoo | 2006 |
[Argon laser iridoplasty in the treatment of angle closure glaucoma with plateau iris syndrome].
Topics: Adult; Argon; Female; Glaucoma, Angle-Closure; Humans; Iris; Laser Therapy; Male; Middle Aged; Syndr | 2006 |
Floppy iris behaviour during cataract surgery: associations and variations.
Topics: Adrenergic alpha-Antagonists; Cataract Extraction; Diabetes Complications; Female; Humans; Iris; Iri | 2007 |
High prevalence of plateau iris configuration in family members of patients with plateau iris syndrome.
Topics: Adult; Aged; Anterior Eye Segment; Female; Glaucoma, Angle-Closure; Gonioscopy; Humans; Iridectomy; | 2006 |
Intraoperative floppy-iris syndrome.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Antineoplastic Agents; Humans | 2006 |
Preoperative use of atropine to prevent intraoperative floppy-iris syndrome in patients taking tamsulosin.
Topics: Adrenergic alpha-Antagonists; Atropine; Humans; Intraoperative Complications; Iris; Iris Diseases; M | 2006 |
Cataract surgery management in patients taking tamsulosin staged approach.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Anti-Inflammatory Agents, Non | 2006 |
Iris tears secondary to intraoperative floppy-iris syndrome associated with tamsulosin.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Aged; Humans; Intraoperative | 2006 |
Congenital iris ectropion and glaucoma associated with intestinal neuronal dysplasia: a manifestation of a neural crest syndrome.
Topics: Child, Preschool; Enteric Nervous System; Eye Abnormalities; Glaucoma; Humans; Intestinal Diseases; | 2006 |
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
Topics: Abnormalities, Multiple; Aniridia; Blepharoptosis; Child; DNA Mutational Analysis; Exotropia; Eye Ab | 2006 |
Progressive iris changes in a case of Axenfeld-Rieger syndrome.
Topics: Anterior Eye Segment; Eye Abnormalities; Female; Humans; Infant; Iris; Syndrome | 2006 |
Intraoperative floppy-iris syndrome, alpha1-adrenergic antagonists, and chronic intake of mianserin: is there an association?
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Aged; Antidepressive Agents, | 2007 |
Labetalol causing intraoperative floppy-iris syndrome.
Topics: Adrenergic alpha-Antagonists; Humans; Intraoperative Complications; Iris; Iris Diseases; Labetalol; | 2007 |
[Iridocorneal endothelial syndrome and glaucoma].
Topics: Corneal Diseases; Endothelium, Vascular; Glaucoma; Humans; Iris; Retinal Vessels; Syndrome | 2007 |
Preoperative atropine in IFIS.
Topics: Adrenergic alpha-Antagonists; Antineoplastic Agents; Atropine; Humans; Intraoperative Complications; | 2007 |
Combined preoperative topical atropine sulfate 1% and intracameral nonpreserved epinephrine hydrochloride 1:4000 [corrected] for management of intraoperative floppy-iris syndrome.
Topics: Administration, Topical; Adrenergic alpha-Antagonists; Atropine; Drug Therapy, Combination; Epinephr | 2007 |
Bilateral prominent schwalbe ring in the anterior chamber in a patient with axenfeld-rieger syndrome and megalocornea.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Cornea; Eye Abnormalities; Glaucoma; Gonioscopy; H | 2007 |
[Intraoperative floppy iris syndrome].
Topics: Adrenergic alpha-Antagonists; Antipsychotic Agents; Cataract Extraction; Humans; Intraoperative Comp | 2007 |
Iris prolapse and the floppy-iris syndrome.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Antineoplastic Agents; Humans | 2007 |
Prophylaxis for IFIS.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Atropine; Cataract Extraction | 2007 |
Tamsulosin and cataract surgery: hypotonic iris.
Topics: Cataract Extraction; Humans; Intraoperative Complications; Iris; Male; Miosis; Risk Assessment; Sulf | 2007 |
Intravitreal bevacizumab (Avastin) injection in ocular ischemic syndrome.
Topics: Aged; Angiogenesis Inhibitors; Antibodies, Monoclonal; Antibodies, Monoclonal, Humanized; Bevacizuma | 2007 |
Recurrent anterior chamber hemorrhage from an intraocular lens simulating amaurosis fugax.
Topics: Aged; Amaurosis Fugax; Anterior Chamber; Blood Vessels; Diagnosis, Differential; Female; Glaucoma; H | 2007 |
Postoperative finding in the intraoperative floppy-iris syndrome.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Aged; Atrophy; Humans; Intrao | 2007 |
Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome.
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, 13-15; Cytoge | 2007 |
[Irido-corneal dysgenesis, Axenfeld Rieger syndrome].
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Corneal Opacity; Diagnosis, Differential; Eye | 2007 |
MARCHESANI'S SYNDROME.
Topics: Abnormalities, Multiple; Adolescent; Glaucoma; Humans; Intraocular Pressure; Iridectomy; Iris; Male; | 1961 |
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.
Topics: Amino Acid Motifs; Anus, Imperforate; BH3 Interacting Domain Death Agonist Protein; Chromosomes, Hum | 2008 |
Plateau iris syndrome in a child.
Topics: Child; Eye Diseases, Hereditary; Glaucoma, Angle-Closure; Humans; Iridectomy; Iris; Male; Microscopy | 2008 |
[Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome].
Topics: Abnormalities, Multiple; Adult; Cornea; Craniofacial Abnormalities; Diagnostic Techniques, Ophthalmo | 2007 |
Comparative effect of alfuzosin and tamsulosin on the contractile response of isolated rabbit prostatic and iris dilator smooth muscles: possible model for intraoperative floppy-iris syndrome.
Topics: Adrenergic alpha-1 Receptor Antagonists; Adrenergic alpha-Antagonists; Animals; Disease Models, Anim | 2008 |
Floppy Iris Syndrome Hull Hooks (FISH Hooks): a new technique for managing IFIS in trabeculectomy surgery.
Topics: Adrenergic alpha-Antagonists; Aged; Humans; Intraoperative Complications; Iris; Iris Diseases; Male; | 2009 |
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Aryl Hydrocarbon Hydroxylases; Base Sequence; Cytochr | 2008 |
Wilms' tumor-aniridia association: segregation of affected chromosome in somatic cell hybrids, identification of cell surface antigen associated with deleted area, and regional mapping of c-Ha-ras-1 oncogene, insulin gene, and beta-globin gene.
Topics: Animals; Antigens, Surface; Cell Line; Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6- | 1984 |
Del11p13/nephroblastoma without aniridia.
Topics: Acatalasia; Catalase; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, | 1984 |
Association of Wilms' tumor with Peter's anomaly.
Topics: Cataract; Corneal Opacity; Humans; Infant; Infant, Newborn; Iris; Kidney Neoplasms; Male; Syndrome; | 1984 |
Silver staining of the supernumerary chromosome in the cat-eye syndrome.
Topics: Anus, Imperforate; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; C | 1980 |
Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.
Topics: Abnormalities, Multiple; Adolescent; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; | 1980 |
Birth defects and cancer due to small chromosomal deletions.
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Humans; Iris; Kidney Neoplasms; Syndrome; Wilms | 1980 |
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).
Topics: Abnormalities, Multiple; Bone Neoplasms; Child; Chondroma; Chromosome Deletion; Chromosomes, Human, | 1980 |
Response of human corneal endothelial cells to increased intraocular pressure.
Topics: Adult; Aged; Atrophy; Cell Count; Cornea; Endothelium; Female; Glaucoma; Humans; Intraocular Pressur | 1980 |
[Aniridia and Wilms' tumor (Miller's syndrome)].
Topics: Humans; Iris; Kidney Neoplasms; Syndrome; Wilms Tumor | 1981 |
[Combination of nephroblastoma and aniridia in a child with congenital deletion of chromosome 11].
Topics: Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Humans; Iris; K | 1981 |
[Aniridia and Wilm's tumor].
Topics: Child, Preschool; Chromosome Aberrations; Chromosomes, Human, 6-12 and X; Female; Humans; Infant, Ne | 1981 |
Wilms's tumour and aniridia: clinical and cytogenetic features.
Topics: Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Humans; Infant; Iris; | 1982 |
The significance of genetic research in ophthalmology.
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Eye Diseases; Eye Neoplasms; Fabry Disease; Hum | 1982 |
Toward clinical microcytogenetics: the aniridia and the retinoblastoma stories.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, 13-15; Eye Neoplasms; Female; Huma | 1982 |
[Prometaphase cytogenetic study of 13 cases of Wilms' tumor without aniridia].
Topics: Catalase; Child; Child, Preschool; Chromosome Aberrations; Humans; Infant; Iris; Karyotyping; Kidney | 1983 |
Application of isozymes to the mapping of inherited ophthalmic disorders.
Topics: Acid Phosphatase; Clinical Enzyme Tests; Eye Diseases; Genes, Dominant; Gonadal Dysgenesis; Humans; | 1983 |
Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.
Topics: Abnormalities, Multiple; Adolescent; Catalase; Child, Preschool; Chromosome Banding; Chromosome Dele | 1984 |
[Peters' anomaly].
Topics: Anterior Chamber; Child, Preschool; Cornea; Eye Abnormalities; Female; Glaucoma; Humans; Infant; Iri | 1983 |
Histochemical and polarization optical investigation for glycosaminoglycans in exfoliation syndrome.
Topics: Aged; Cataract; Chondroitin Sulfates; Female; Glycosaminoglycans; Histocytochemistry; Humans; Hyalur | 1983 |
[Rieger's syndrome. Clinical and ultramicroscopy study].
Topics: Eye; Eye Abnormalities; Humans; Iris; Microscopy, Electron; Syndrome; Trabecular Meshwork | 1983 |
Iris retraction associated with rhegmatogenous retinal detachment syndrome and hypotony. A new explanation.
Topics: Acetazolamide; Adult; Aged; Aqueous Humor; Female; Glaucoma; Humans; Intraocular Pressure; Iris; Iri | 1984 |
Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature.
Topics: Anus, Imperforate; Coloboma; Heart Septal Defects, Ventricular; Hirschsprung Disease; Humans; Infant | 1984 |
[A case of Rieger's syndrome].
Topics: Abnormalities, Multiple; Cataract; Cornea; Female; Humans; Infant, Newborn; Iris; Syndrome | 1984 |
[Weill-Marchesani syndrome. Study of a case].
Topics: Abnormalities, Multiple; Coloboma; Female; Humans; Iris; Lens, Crystalline; Middle Aged; Mosaicism; | 1984 |
[Artificial lenses and Fuchs' syndrome].
Topics: Adult; Aged; Atrophy; Cataract; Eye Color; Female; Humans; Iris; Lenses, Intraocular; Male; Syndrome | 1984 |
Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).
Topics: Cerebellar Ataxia; Child, Preschool; Electroretinography; Female; Humans; Intellectual Disability; I | 1984 |
Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.
Topics: Anus, Imperforate; Chromosome Banding; Chromosomes, Human, 21-22 and Y; Coloboma; Female; Genetic Ma | 1984 |
[Iris angiography and endothelium microscopy in dysgenesis mesodermalis iridis et corneae].
Topics: Adult; Anterior Chamber; Cornea; Endothelium; Fluorescein Angiography; Humans; Iris; Mesoderm; Micro | 1983 |
Lens-induced complications with anterior chamber lens implants: a comparison with iris supported and posterior chamber lenses.
Topics: Anterior Chamber; Female; Glaucoma; Humans; Hyphema; Iris; Lenses, Intraocular; Macular Edema; Pupil | 1983 |
Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Child; Child, Preschool; Corneal Diseases; Corneal | 1983 |
[Gillespie syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)].
Topics: Cerebellar Ataxia; Child; Child, Preschool; Electroretinography; Eye Diseases; Female; Humans; Intel | 1984 |
Ocular defects and short stature.
Topics: Adolescent; Agenesis of Corpus Callosum; Child; Child, Preschool; Coloboma; Encephalocele; Eye Abnor | 1980 |
Ocular findings in arteriohepatic dysplasia (Alagille's syndrome).
Topics: Adult; Bile Ducts, Intrahepatic; Cardiovascular Diseases; Child, Preschool; Color Perception Tests; | 1981 |
[Ophthalmologic findings in trisomy 18 (Morbus Edwards) (author's transl)].
Topics: Chromosomes, Human, 16-18; Eye; Eye Abnormalities; Female; Humans; Infant, Newborn; Iris; Syndrome; | 1982 |
Ocular abnormalities in deletion of the long arm of chromosome 11.
Topics: Choroid; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 6-12 | 1981 |
A newly recognized syndrome of connective tissue dysplasia in siblings (previously described as a variant of Morquio disease).
Topics: Adolescent; Bone Diseases, Developmental; Collagen Diseases; Diagnosis, Differential; Female; Humans | 1981 |
[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].
Topics: Abnormalities, Multiple; Child; Child, Preschool; Diagnosis, Differential; Eye Abnormalities; Eye Di | 1982 |
Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.
Topics: Anterior Chamber; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 16-18; Eye; Fema | 1983 |
Epithelial characteristics of the endothelium in Chandler's syndrome.
Topics: Aged; Cornea; Corneal Diseases; Endothelium; Epithelium; Glaucoma; Humans; Iris; Iris Diseases; Male | 1983 |
Dimensions of the anterior chamber in pigment dispersion syndrome.
Topics: Adult; Anterior Chamber; Eye Diseases; Female; Glaucoma; Humans; Iris; Male; Middle Aged; Pigment Ep | 1983 |
Spherophakia in a Newfoundland family: 8 years' experience.
Topics: Adolescent; Adult; Child; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans | 1983 |
Physiopathology of Fuchs's heterochromic cyclitis.
Topics: Autonomic Nervous System Diseases; Humans; Iris; Sympathetic Nervous System; Syndrome; Uveitis; Uvei | 1981 |
[Morphological and functional findings in a family with aniridia (author's transl)].
Topics: Adolescent; Adult; Blepharoptosis; Cataract; Child; Coloboma; Color Vision Defects; Cornea; Female; | 1981 |
[Anterior cleavage syndrome associated with endocrine orbitopathy (author's transl)].
Topics: Adult; Corneal Dystrophies, Hereditary; Female; Glaucoma; Graves Disease; Humans; Iris; Syndrome; To | 1981 |
Marchesani's syndrome.
Topics: Abnormalities, Multiple; Adult; Amino Acids; Body Constitution; Female; Fingers; Humans; Iris; Lens | 1981 |
Primary calcareous corneal dystrophy. A case report.
Topics: Calcinosis; Calcium; Corneal Dystrophies, Hereditary; Corneal Opacity; Glaucoma; Humans; Iris; Male; | 1982 |
Histopathology in the iris-nevus (Cogan-Reese) syndrome.
Topics: Adult; Descemet Membrane; Female; Humans; Iris; Microscopy, Electron; Microscopy, Phase-Contrast; Ne | 1980 |
Corneal decompensation in Chandler's syndrome. Clinical, histopathologic and ultrastructural study.
Topics: Adult; Cornea; Corneal Diseases; Corneal Transplantation; Corneal Ulcer; Edema; Female; Humans; Iris | 1981 |
3:1 meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring.
Topics: Adult; Alleles; Chromosome Deletion; Chromosomes, Human, 13-15; Chromosomes, Human, 4-5; Coloboma; D | 1982 |
Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity.
Topics: Catalase; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chrom | 1982 |
[Cogan-Reese syndrome].
Topics: Adult; Female; Humans; Iris; Iris Diseases; Microscopy, Electron; Microscopy, Electron, Scanning; Ne | 1982 |
[Diversity of the clinico-genetic manifestations of Frank-Kamenetsky's syndrome].
Topics: Child; Female; Genetic Linkage; Glaucoma; Humans; Iris; Male; Pedigree; Syndrome | 1982 |
[Riegers' anomaly with signs of hydrophthalmia and spontaneous pressure regulation].
Topics: Adolescent; Child; Child, Preschool; Gonioscopy; Humans; Hydrophthalmos; Intraocular Pressure; Iris; | 1982 |
A syndrome involving congenital cataracts of unusual morphology, microcornea, abnormal irides, nystagmus and congenital glaucoma, inherited as an autosomal dominant trait.
Topics: Adult; Aged; Cataract; Child; Chromosome Aberrations; Chromosome Disorders; Cornea; Diagnosis, Diffe | 1982 |
The Rieger syndrome: a heritable disorder associated with glaucoma.
Topics: Adult; Anodontia; Anterior Chamber; Child; Female; Glaucoma; Humans; Iris; Iris Diseases; Male; Synd | 1982 |
Partial corneal involvement in the iridocorneal endothelial syndrome.
Topics: Adult; Atrophy; Corneal Diseases; Endothelium; Female; Humans; Iris; Iris Diseases; Syndrome; Visual | 1982 |
[The value of specular microscopy in the diagnosis of endothelial iridocorneal syndrome].
Topics: Adult; Aged; Atrophy; Corneal Diseases; Female; Humans; Iris; Iris Diseases; Male; Microscopy; Middl | 1982 |
The pseudoexfoliation syndrome.
Topics: Basement Membrane; Cornea; Epithelium; Humans; Iris; Lens Capsule, Crystalline; Lens Diseases; Micro | 1982 |
Anterior segment ischemia in Fuchs' heterochromic cyclitis.
Topics: Adolescent; Adult; Cataract; Female; Fluorescein Angiography; Humans; Iris; Ischemia; Male; Middle A | 1980 |
Ataxia with aniridia of Gillespie: a case report.
Topics: Abnormalities, Multiple; Ataxia; Brain; Female; Humans; Infant; Iris; Psychomotor Disorders; Syndrom | 1981 |
Corectopia with nystagmus, absent foveal reflexes and corneal changes.
Topics: Adolescent; Adult; Child; Coloboma; Cornea; Corneal Opacity; Female; Fovea Centralis; Genes, Dominan | 1981 |
Brief Clinical Report: coloboma hypospadias.
Topics: Child; Chromosomes, Human; Coloboma; Dermatoglyphics; Humans; Hypospadias; Intellectual Disability; | 1981 |
The iris nevus and Cogan-Reese syndromes: separate entities?
Topics: Adolescent; Adult; Child; Descemet Membrane; Female; Glaucoma; Humans; Iris; Nevus; Pupil; Syndrome; | 1981 |
Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia.
Topics: Abnormalities, Multiple; Adult; Bile Ducts, Intrahepatic; Child, Preschool; Cholestasis, Intrahepati | 1981 |
[Direction-changing spontaneous nystagmus with simultaneous change in pupil diameter and eyelid interspace. Oculopupillomotor syndrome in blindness due to dysgenesis mesodermalis iridis et corneae Rieger].
Topics: Adult; Blindness; Cornea; Electronystagmography; Eyelids; Humans; Iris; Male; Middle Aged; Nystagmus | 1981 |
Oculocutaneous albinism and corneal mesodermal dysgenesis.
Topics: Adult; Albinism; Child; Corneal Opacity; Female; Humans; Iris; Male; Syndrome | 1981 |
[Rare complications of secondary glaucoma in pulsating exophthalmos].
Topics: Atrophy; Cataract; Exophthalmos; Glaucoma; Humans; Iris; Iris Diseases; Male; Middle Aged; Pigmentat | 1981 |
Aniridia and mental retardation with deletion of the short arm of chromosome 11.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosome | 1981 |
Rieger's anomaly: a 42-year follow-up.
Topics: Anterior Chamber; Female; Follow-Up Studies; Glaucoma; Humans; Iris; Middle Aged; Syndrome; Visual A | 1980 |
Electron microscopy in iris nevus syndrome.
Topics: Cataract; Eye Neoplasms; Female; Glaucoma; Humans; Iris; Microscopy, Electron; Middle Aged; Nevus; S | 1980 |
Jansky-Bielschowsky form of neuronal ceroid-lipofuscinosis. Ocular pathology of the Batten-Vogt syndrome.
Topics: Child, Preschool; Eye; Female; Humans; Iris; Nervous System Diseases; Pigment Epithelium of Eye; Pig | 1980 |
The iris naevus (Cogan-Reese) syndrome: light and electron microscopic observations.
Topics: Adult; Eye Neoplasms; Female; Glaucoma; Humans; Iris; Microscopy, Electron; Microscopy, Electron, Sc | 1980 |
B-K mole syndrome. Cutaneous and ocular malignant melanoma.
Topics: Ciliary Body; Eye Neoplasms; Humans; Iris; Male; Melanoma; Middle Aged; Neoplasms, Multiple Primary; | 1980 |
Primary empty sella and Rieger's anomaly of the anterior chamber of the eye: a familial syndrome.
Topics: Adult; Anterior Chamber; Child; Empty Sella Syndrome; Female; Genes, Dominant; Glaucoma; Humans; Iri | 1981 |
Specular microscopy of irido-corneal endothelial syndrome.
Topics: Adult; Atrophy; Corneal Diseases; Endothelium; Female; Humans; Iris; Iris Diseases; Microscopy; Midd | 1980 |
Hypoplasia of the iris stroma in Gregg's syndrome unaccompanied by cataract but with deafness, rubella retinopathy and onset of glaucoma in adult or adolescent life.
Topics: Abnormalities, Multiple; Adolescent; Adult; Female; Glaucoma; Humans; Iris; Male; Pregnancy; Pregnan | 1980 |
Partial trisomy 1 (q42 leads to ter).
Topics: Abnormalities, Multiple; Abortion, Spontaneous; Chromosomes, Human, 1-3; Coloboma; Female; Fetal Dis | 1980 |
Hypoperfusion of the iris and its consequences in anterior segment pigment dispersal syndrome.
Topics: Adult; Aged; Anterior Eye Segment; Female; Fluorescein Angiography; Glaucoma, Open-Angle; Humans; In | 1994 |
Blepharophimosis syndrome: association with colobomatous microphthalmos.
Topics: Child, Preschool; Choroid; Coloboma; Eyelid Diseases; Humans; Iris; Male; Microphthalmos; Optic Disk | 1995 |
Descemet's membrane in the iridocorneal-endothelial syndrome: morphology and composition.
Topics: Adult; Atrophy; Basement Membrane; Collagen; Contractile Proteins; Corneal Diseases; Descemet Membra | 1995 |
On the pathology of the iridocorneal-endothelial syndrome: the ultrastructural appearances of 'subtotal-ice'.
Topics: Atrophy; Corneal Edema; Endothelium, Corneal; Glaucoma; Humans; Iris; Microscopy, Electron; Microsco | 1995 |
Herpes simplex virus in iridocorneal endothelial syndrome.
Topics: Antibodies, Viral; Antiviral Agents; DNA, Viral; Endothelium, Corneal; Herpesvirus 1, Human; Humans; | 1995 |
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
Topics: Chromosomes, Human, Pair 4; Female; Genes, Dominant; Genetic Linkage; Genetic Markers; Glaucoma; Hum | 1995 |
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.
Topics: Chromosome Inversion; Chromosomes, Human, Pair 22; Coloboma; Genetic Variation; Humans; Infant, Newb | 1994 |
Aqueous misdirection syndrome: a complication of neodymium: YAG posterior capsulotomy.
Topics: Anterior Chamber; Aqueous Humor; Glaucoma, Angle-Closure; Humans; Intraocular Pressure; Iris; Laser | 1994 |
[Glaucoma with Axenfeld-Rieger syndrome in three generations. Aqueous humor dynamics].
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Aqueous Humor; Family Health; Female; Glaucoma; Hu | 1994 |
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
Topics: Abnormalities, Multiple; Albinism, Oculocutaneous; Child; Consanguinity; Ear; Female; Genes, Recessi | 1994 |
Cardiac valvular disease and Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Anterior Chamber; Aortic Valve Stenosis; Child; Eye Abnormalities; Glaucoma | 1994 |
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.
Topics: Abnormalities, Multiple; Adult; Dental Enamel Hypoplasia; Face; Female; Humans; Infant; Infant, Newb | 1993 |
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata.
Topics: Abnormalities, Multiple; Cerebellum; Child, Preschool; Coloboma; Facial Bones; Female; Heart Septal | 1994 |
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child, Preschool; Coloboma; Deafness; Female; | 1993 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
Topics: Abnormalities, Multiple; Adolescent; Blepharoptosis; Coloboma; Diagnosis, Differential; Humans; Hype | 1993 |
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?
Topics: Abnormalities, Multiple; Adult; Child; Child, Preschool; Facial Bones; Family Health; Female; Fetal | 1995 |
An unusual presentation of Smith-Magenis syndrome with iris dysgenesis.
Topics: Adult; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 17; DNA Probes; Eye Abnorma | 1996 |
Cat eye syndrome and dystonia.
Topics: Adult; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 22; Coloboma; Dystonia | 1996 |
Bilateral iridocorneal endothelial syndrome presented as Cogan-Reese and Chandler's syndrome.
Topics: Adult; Atrophy; Corneal Diseases; Disease Progression; Endothelium, Corneal; Female; Follow-Up Studi | 1996 |
Uveal effusion syndrome.
Topics: Aged; Diagnosis, Differential; Glaucoma, Angle-Closure; Humans; Intraocular Pressure; Iris; Laser Th | 1996 |
Germline WT1 mutations in Wilms' tumor patients: preliminary results.
Topics: Base Sequence; Exons; Genes, Wilms Tumor; Humans; Iris; Kidney Neoplasms; Mutation; Neoplasms, Multi | 1996 |
Genotype/phenotype correlations in Wilms' tumor.
Topics: Alleles; Amino Acid Sequence; Antisense Elements (Genetics); Child; Consensus Sequence; DNA Transpos | 1996 |
Identification of a cat eye syndrome using DNA sequence dosage analysis.
Topics: Abnormalities, Multiple; Adult; Anus, Imperforate; Chromosome Aberrations; Chromosome Disorders; Chr | 1996 |
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Chromosome Mapping; Chromosomes, Human, Pair 4 | 1996 |
Prenatal growth retardation associated with microcephaly, microphthalmos/iris coloboma and other congenital malformations in three siblings.
Topics: Abnormalities, Multiple; Coloboma; Fetal Growth Retardation; Humans; Infant, Newborn; Iris; Microcep | 1997 |
Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)
Topics: Brain; Coloboma; Hirschsprung Disease; Humans; Infant; Iris; Magnetic Resonance Imaging; Male; Micro | 1997 |
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
Topics: Anterior Chamber; Cornea; Female; Homeobox Protein PITX2; Homeodomain Proteins; Humans; Iris; Iris D | 1998 |
Congenital aphakia in Peters' anomaly syndrome. A case report.
Topics: Anterior Eye Segment; Aphakia; Atrophy; Ciliary Body; Corneal Opacity; Eye Enucleation; Glaucoma; Hu | 1997 |
[Progressive essential atrophy of the iris as a form of the iridocorneal endothelial (ICE) syndrome].
Topics: Adult; Atrophy; Corneal Diseases; Endothelium, Corneal; Female; Humans; Iris; Iris Diseases; Male; M | 1997 |
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.
Topics: Abnormalities, Multiple; Cerebellum; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1998 |
[Corneal endothelial decompensation of iridocorneal endothelial syndrome treated by penetrating keratoplasty].
Topics: Adult; Atrophy; Cornea; Corneal Diseases; Corneal Edema; Female; Follow-Up Studies; Humans; Iris; Ir | 1996 |
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.
Topics: Adolescent; Adult; Amino Acid Sequence; Anterior Chamber; Child; DNA Mutational Analysis; Female; Ge | 1998 |
Difficult airway management in a baby with Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Anesthesia; Eye Diseases; Humans; Infant, Newborn; Intubation, Intratrachea | 1998 |
Iris retraction syndrome associated with nonrhegmatogenous retinal detachment.
Topics: Aged; Anterior Eye Segment; Ciliary Body; Exudates and Transudates; Follow-Up Studies; Humans; Iris; | 1998 |
[Iris vessel involvement in iris-nevus syndrome].
Topics: Adult; Blood-Aqueous Barrier; Endothelium, Corneal; Female; Fluorescein Angiography; Humans; Iris; I | 1999 |
New case of the Richieri-Costa/Guion-Almeida syndrome.
Topics: Abnormalities, Multiple; Adolescent; Cleft Lip; Cleft Palate; Growth Disorders; Humans; Iris; Male; | 1999 |
Recurrent angle-closure glaucoma.
Topics: Chronic Disease; Diagnostic Techniques, Ophthalmological; Female; Glaucoma, Angle-Closure; Humans; I | 1999 |
A malignant glaucoma-like syndrome following pars plana vitrectomy.
Topics: Aged; Anterior Chamber; Aqueous Humor; Glaucoma, Angle-Closure; Humans; Intraocular Pressure; Iris; | 1999 |
[A case of an incomplete Urrets-Zavalia syndrome as a result of operated keratoconus].
Topics: Adult; Atrophy; Diagnosis, Differential; Humans; Iris; Keratoconus; Keratoplasty, Penetrating; Male; | 1998 |
Histopathology and molecular basis of iridogoniodysgenesis syndrome.
Topics: Congenital Abnormalities; Glaucoma; Homeobox Protein PITX2; Homeodomain Proteins; Humans; Iris; Male | 1999 |
Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.
Topics: Abnormalities, Multiple; Amino Acid Sequence; Amino Acid Substitution; Animals; Calorimetry; Conserv | 1999 |
Plateau iris syndrome: changes in angle opening associated with dark, light, and pilocarpine administration.
Topics: Anterior Eye Segment; Ciliary Body; Dark Adaptation; Female; Humans; Iris; Iris Diseases; Light; Mal | 1999 |
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Topics: Abnormalities, Multiple; Adolescent; Body Weight; Child; Child, Preschool; Chromosome Deletion; Chro | 2000 |
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.
Topics: Anterior Eye Segment; DNA Mutational Analysis; Eye Diseases, Hereditary; Eye Proteins; Female; Heter | 2000 |
Unilateral glaucoma in Sotos syndrome (cerebral gigantism).
Topics: Abnormalities, Multiple; Brain; Cataract; Cornea; Eye Abnormalities; Gigantism; Glaucoma; Humans; In | 2000 |
SHORT syndrome: a case with high hyperopia and astigmatism.
Topics: Abnormalities, Multiple; Astigmatism; Child; Cornea; Corneal Opacity; Developmental Disabilities; Ey | 2000 |
[Urrets-Zavalia syndrome].
Topics: Adult; Atrophy; Female; Follow-Up Studies; Fuchs' Endothelial Dystrophy; Humans; Iris; Iris Diseases | 2001 |
[Iridocorneal endothelial syndrome. Series of 7 cases].
Topics: Adult; Cornea; Corneal Diseases; Corneal Dystrophies, Hereditary; Endothelium, Corneal; Female; Huma | 2001 |
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
Topics: Adolescent; Amino Acid Sequence; Anterior Eye Segment; Base Sequence; Child; DNA Mutational Analysis | 2001 |
Infusion misdirection syndrome during trabeculectomy for primary trabeculodysgenesis.
Topics: Adult; Choroid Hemorrhage; Cornea; Eye Abnormalities; Female; Humans; Intraocular Pressure; Intraope | 2002 |
Fixed dilated pupil (Urrets-Zavalia syndrome) after air/gas injection after deep lamellar keratoplasty for keratoconus.
Topics: Adult; Air; Anterior Chamber; Atrophy; Corneal Transplantation; Female; Humans; Injections; Iris; Ke | 2002 |
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
Topics: Brazil; Chromosomes, Human, Pair 4; Chromosomes, Human, Pair 6; Cornea; DNA Mutational Analysis; DNA | 2002 |
[Profuse lentigo, little leopard syndrome].
Topics: Abnormalities, Multiple; Anus, Imperforate; Attention Deficit Disorder with Hyperactivity; Child; Cr | 1977 |
Stickler's syndrome and neovascular glaucoma.
Topics: Adult; Female; Fluorescein Angiography; Glaucoma; Humans; Iris; Neovascularization, Pathologic; Pedi | 1979 |
Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).
Topics: Abnormalities, Multiple; Adolescent; Adult; Azure Stains; Blepharoptosis; Chromosome Deletion; Chrom | 1978 |
Rieger's anomaly with congenital glaucoma a case presentation of postnatal anterior segment maturation.
Topics: Abnormalities, Multiple; Acetazolamide; Adult; Eye Abnormalities; Female; Glaucoma; Humans; Infant; | 1979 |
Vascular anastomoses between the iris and persistent hyperplastic primary vitreous.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Diagnosis, Differential; Eye Abnormalities; Eye Di | 1979 |
[Irvine-Gass syndrome. Statistical and angiographic study].
Topics: Cataract Extraction; Cortisone; Cysts; Edema; Female; Humans; Iris; Macula Lutea; Male; Prednisone; | 1976 |
Fixed dilated pupil following penetrating keratoplasty in keratoconus (Castroviejo syndrome).
Topics: Adult; Atrophy; Corneal Transplantation; Dilatation, Pathologic; Down Syndrome; Humans; Iris; Kerato | 1977 |
Wilms' tumor in seven children with congenital aniridia.
Topics: Abnormalities, Multiple; Child, Preschool; Diagnosis, Differential; Humans; Infant; Infant, Newborn; | 1975 |
Aniridia-Wilms' tumour syndrome.
Topics: Child, Preschool; Female; Humans; Infant; Iris; Syndrome; Wilms Tumor | 1977 |
[The aniridia-nephroblastoma syndrome].
Topics: Child, Preschool; Chromosomes; Humans; Iris; Karyotyping; Kidney Neoplasms; Male; Syndrome; Wilms Tu | 1976 |
[P 11 deletion syndrome. Aniridia, urogenital malformation and mental retardation].
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Diagnosis, Differential; Dysgerminoma; Genitali | 1978 |
[Aniridia and Wilm's tumor].
Topics: Child; Child, Preschool; Female; Humans; Infant; Iris; Kidney Neoplasms; Male; Syndrome; Wilms Tumor | 1978 |
Oculodentodigital dysplasia. Four new reports and a literature review.
Topics: Adolescent; Adult; Bone Diseases, Developmental; Child; Child, Preschool; Cornea; Dental Enamel Hypo | 1979 |
Chromosome analysis techniques expand; new links to cancer.
Topics: Child; Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; Chromosomes, Human, 13-15; | 1979 |
Irido-corneal dysgenesis.
Topics: Abnormalities, Multiple; Amblyopia; Cornea; Female; Humans; Iris; Keratoconus; Male; Strabismus; Syn | 1978 |
Exfoliation material in different sections of the eye.
Topics: Basement Membrane; Endothelium; Eye; Glaucoma; Humans; Iris; Lens, Crystalline; Syndrome; Trabecular | 1977 |
The spectrum of Chandler's syndrome.
Topics: Adult; Atrophy; Corneal Dystrophies, Hereditary; Diagnosis, Differential; Endothelium; Female; Glauc | 1978 |
The spectrum of Chandler's syndrome: an often overlooked cause of unilateral glaucoma.
Topics: Adult; Age Factors; Atrophy; Corneal Dystrophies, Hereditary; Diagnosis, Differential; Endothelium; | 1978 |
Histopathology of cornea and iris in Chandler's syndrome.
Topics: Aged; Cornea; Corneal Diseases; Corneal Dystrophies, Hereditary; Edema; Endothelium; Female; Humans; | 1978 |
Cytogenetic investigation of cat-eye syndrome.
Topics: Adult; Anus, Imperforate; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Chr | 1977 |
Pigment disperson syndrome.
Topics: Adult; Anterior Chamber; Cornea; Eye Diseases; Female; Glaucoma; Humans; Iris; Lens, Crystalline; Pi | 1979 |
Proliferative endotheliopathy with iris abnormalities. The iridocorneal endothelial syndrome.
Topics: Adult; Aged; Atrophy; Cornea; Endothelium; Female; Humans; Iris; Middle Aged; Retrospective Studies; | 1979 |
Corneal decompensation in Chandler's syndrome. A scanning and transmission electron microscopic study.
Topics: Cornea; Descemet Membrane; Endothelium; Female; Humans; Iris; Middle Aged; Syndrome; Uveal Diseases | 1979 |
Rieger's syndrome. A case report with a 15-year follow-up.
Topics: Adolescent; Glaucoma; Gonioscopy; Humans; Iris; Jaw Abnormalities; Male; Retrognathia; Syndrome | 1979 |
Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.
Topics: Adolescent; Adult; Cerebellar Ataxia; Consanguinity; Female; Genes, Recessive; Heterozygote; Humans; | 1979 |
Congenital contractural arachnodactyly and intraocular colobomas.
Topics: Adolescent; Adult; Child; Choroid; Coloboma; Contracture; Female; Genes, Dominant; Humans; Infant; I | 1979 |
[Dyngenesis mesodermalis corneae et iridis. Rieger's syndrome].
Topics: Child, Preschool; Cornea; Female; Humans; Iris; Mouth Abnormalities; Syndrome | 1979 |
[Axenfeld-Rieger syndrome (author's transl)].
Topics: Child; Coloboma; Cornea; Female; Glaucoma; Humans; Iris; Middle Aged; Syndrome | 1979 |
Infra-red transillumination stereophotography of the iris in Fuchs's heterochromic cyclitis.
Topics: Adolescent; Adult; Aged; Atrophy; Cataract; Child; Female; Humans; Infrared Rays; Iris; Male; Middle | 1978 |
The ultrastructure of lens and iris in cerebrotendinous xanthomatosis.
Topics: Adult; Brain Diseases; Cataract; Cholesterol; Female; Humans; Iris; Lens, Crystalline; Syndrome; Ten | 1977 |
Oculocutaneous albinism associated with Apert's syndrome.
Topics: Acrocephalosyndactylia; Adolescent; Adult; Albinism; Child; Child, Preschool; Congenital Abnormaliti | 1977 |
Unilateral glaucoma.
Topics: Angiomatosis; Anterior Chamber; Eye Diseases; Eye Injuries; Eye Neoplasms; Functional Laterality; Gl | 1977 |
Phenylephrine provocative testing in the pigmentary dispersion syndrome.
Topics: Adult; Aged; Anterior Chamber; Female; Glaucoma; Humans; Intraocular Pressure; Iris; Male; Middle Ag | 1978 |
Chandler's syndrome as a variant of essential iris atrophy. A clinicopathologic study.
Topics: Adult; Atrophy; Corneal Diseases; Descemet Membrane; Endothelium; Female; Glaucoma; Humans; Iris; Ma | 1978 |
The HLA and ABO antigens in pigment dispersion syndrome.
Topics: ABO Blood-Group System; Adult; Aged; Eye Color; Female; Glaucoma; HLA Antigens; Humans; Iris; Male; | 1978 |
Iris nevus syndrome.
Topics: Descemet Membrane; Diagnosis, Differential; Eye Color; Eye Neoplasms; Female; Glaucoma; Humans; Iris | 1978 |
IOLAB intraocular lenses: adverse effects.
Topics: Female; Glaucoma; Humans; Hyphema; Intraocular Pressure; Iris; Lenses, Intraocular; Syndrome; Uveiti | 1978 |
Rieger's syndrome with pericentric inversion of chromosome 6.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Child; Chromosome Banding; Chromosome Inversion; C | 1979 |
Malformation syndromes. A selected miscellany.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Chromosomes, Human, 6-12 and X; Dental | 1975 |
A low birthweight syndrome, ? Rieger syndrome.
Topics: Abnormalities, Multiple; Child, Preschool; Eye Abnormalities; Female; Humans; Infant, Newborn; Infan | 1975 |
[Hypoplasia of the pulmonary artery in Rieger's Syndrome (author's transl)].
Topics: Abnormalities, Multiple; Angiocardiography; Child; Cineangiography; Eye Abnormalities; Female; Human | 1976 |
Dermal melanocytosis. Report of an unusual case.
Topics: Adult; Diagnosis, Differential; Female; Humans; Iris; Melanocytes; Melanosis; Nevus; Skin Diseases; | 1977 |
Successful lens removal in congenital corneolenticular adhesion (Peters' anomaly).
Topics: Cataract; Cataract Extraction; Congenital Abnormalities; Contact Lenses; Cornea; Corneal Opacity; Fe | 1977 |
Iris transillumination and variable expression in ectopia lentis et pupillae.
Topics: Child; Female; Humans; Infant; Iris; Lens, Crystalline; Male; Pedigree; Syndrome; Transillumination; | 1977 |
Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome?
Topics: Adult; Aortic Aneurysm; Female; Humans; Hypertension; Iris; Middle Aged; Pedigree; Syndrome | 1976 |
[The exfoliation syndrome: source of the fibrillar material on the capsule (author's transl)].
Topics: Adult; Eye Diseases; Glaucoma; Humans; Iris; Lens, Crystalline; Male; Pigment Epithelium of Eye; Syn | 1976 |
The exfoliation syndrome.
Topics: Adult; Aged; Aging; Aqueous Humor; Basement Membrane; Cataract; Ciliary Body; Cornea; Epithelial Cel | 1976 |
Endothelialization of filtering bleb in iris nevus syndrome.
Topics: Corneal Diseases; Descemet Membrane; Endothelium; Eye Neoplasms; Glaucoma; Humans; Hyphema; Iris; Ma | 1976 |
The pigmentary dispersion syndrome and glaucoma.
Topics: Adult; Age Factors; Aged; Atrophy; Corneal Diseases; Epithelium; Eye Diseases; Female; Glaucoma; Hum | 1976 |
Older paternal age and fresh gene mutation: data on additional disorders.
Topics: Age Factors; Bone Cysts; Brain Diseases; Carcinoma, Basal Cell; Cleidocranial Dysplasia; Congenital | 1975 |
The ophthalmic manifestations of Rothmund's syndrome.
Topics: Adolescent; Cataract; Congenital Abnormalities; Cornea; Eye Diseases; Female; Humans; Iris; Keratoco | 1975 |
The Williams elfin facies syndrome. A new perspective.
Topics: Adolescent; Adult; Aortic Valve Stenosis; Child; Child, Preschool; Eyelids; Face; Female; Growth Dis | 1975 |
Diabetic vacuolation of the iris pigment epithelium.
Topics: Blood Glucose; Diabetes Complications; Diabetic Nephropathies; Epithelium; Glycogen; Iris; Kidney Tu | 1975 |
Trisomy 22.
Topics: Abnormalities, Multiple; Aneuploidy; Anus, Imperforate; Chromosomes, Human, 21-22 and Y; Cleft Palat | 1975 |
Rubeosis in Fuchs heterochromic iridocyclitis.
Topics: Anterior Chamber; Atrophy; Cataract; Cataract Extraction; Cornea; Female; Glaucoma; Humans; Iris; Mi | 1975 |
Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.
Topics: Cerebral Palsy; Child, Preschool; Cornea; Dermatoglyphics; Electroencephalography; Genes, Recessive; | 1975 |
The histopathology of Peters' anomaly.
Topics: Cornea; Corneal Opacity; Descemet Membrane; Endothelium; Humans; Infant; Iris; Male; Microscopy, Ele | 1975 |
Iris nevus (Cogan-Reese) syndrome. A cause of unilateral glaucoma.
Topics: Adolescent; Adult; Atrophy; Child; Diagnosis, Differential; Eye Diseases; Eye Neoplasms; Female; Gla | 1975 |
[Coloboma of the iris and anal atresia. Cat eye syndrome. Schmid-Fraccaro's syndrome].
Topics: Anus, Imperforate; Child, Preschool; Coloboma; Eye Diseases; Female; Humans; Iris; Syndrome | 1975 |
The histopathology of pigmentary dispersion syndrome with glaucoma.
Topics: Atrophy; Cornea; Epithelial Cells; Epithelium; Female; Glaucoma; Humans; Iris; Melanosis; Middle Age | 1975 |
[Anterior-cleavage-syndrome (author's transl)].
Topics: Abnormalities, Multiple; Adolescent; Anodontia; Congenital Abnormalities; Cornea; Diagnosis, Differe | 1975 |
[2. Obesity due to overeating. Symptoms and classification of various forms of obesity].
Topics: Abnormalities, Multiple; Child; Child Nutritional Physiological Phenomena; Coloboma; Diabetes Mellit | 1975 |
[Rieger's syndrome and glaucoma].
Topics: Abnormalities, Multiple; Adolescent; Adult; Cornea; Female; Glaucoma; Humans; Iris; Male; Pedigree; | 1976 |
[Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes].
Topics: Abnormalities, Multiple; Anus, Imperforate; Child, Preschool; Chromosome Aberrations; Chromosome Dis | 1992 |
Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis.
Topics: Atrophy; Corneal Dystrophies, Hereditary; Endothelium, Corneal; Female; Humans; Intraocular Pressure | 1992 |
Pigmentary dispersion syndrome and pigmentary glaucoma: a new mechanism concept, a new treatment, and a new technique.
Topics: Adult; Aged; Aged, 80 and over; Cataract Extraction; Female; Glaucoma, Open-Angle; Humans; Iris; Las | 1992 |
Precapsular layer of the anterior lens capsule in early pseudoexfoliation syndrome.
Topics: Aged; Aged, 80 and over; Anterior Eye Segment; Atrophy; Eye Diseases; Female; Humans; Iris; Laminin; | 1992 |
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child, Preschool; Coloboma; Developmental Disa | 1990 |
Midline facial defects with ocular colobomata.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Coloboma; Developmental Disabilities; Face; Female | 1990 |
Iris vasculopathy in exfoliation syndrome. An immunocytochemical study.
Topics: Aged; Aged, 80 and over; Extracellular Matrix Proteins; Eye Diseases; Eye Enucleation; Female; Glauc | 1991 |
Optic tract syndrome with relative afferent pupillary defect.
Topics: Fundus Oculi; Hemianopsia; Humans; Iris; Male; Middle Aged; Optic Atrophy; Optic Nerve Diseases; Pup | 1991 |
Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.
Topics: Abnormalities, Multiple; Child; Female; Genes, Recessive; Heart Defects, Congenital; Humans; Infant; | 1991 |
Awan's syndrome (primary orbital hypertelorism, narrow-angle glaucoma and lean physique) in two women.
Topics: Body Constitution; Female; Glaucoma, Angle-Closure; Gonioscopy; Humans; Hypertelorism; Intraocular P | 1991 |
Iris nevus syndrome (report of 9 cases).
Topics: Adult; Endothelium, Corneal; Female; Glaucoma; Humans; Iris; Iris Neoplasms; Male; Middle Aged; Nevu | 1991 |
[The exfoliation syndrome: report of 9 eyes in 7 patients].
Topics: Aged; Aged, 80 and over; Anterior Eye Segment; Cataract; Eye Diseases; Female; Glaucoma, Open-Angle; | 1991 |
[The dependence of the diaphragmatic properties of the iris on the degree of its atrophy in the pseudoexfoliative syndrome in cataract patients].
Topics: Adult; Aged; Aged, 80 and over; Atrophy; Cataract; Female; Humans; Iris; Iris Diseases; Male; Middle | 1990 |
The dural shunt syndrome. I. Management of glaucoma.
Topics: Aged; Anterior Chamber; Arteriovenous Fistula; Carotid Artery, Internal; Cavernous Sinus; Eye Diseas | 1990 |
The iris in Williams syndrome.
Topics: Aortic Valve Stenosis; Child; Eye Color; Face; Humans; Incidence; Intellectual Disability; Iris; Syn | 1990 |
Ocular pathologic features of arteriohepatic dysplasia (Alagille's syndrome).
Topics: Abnormalities, Multiple; Child; Ciliary Body; Common Bile Duct; Eye; Female; Humans; Infant; Infant, | 1990 |
[Clinical aspects and histopathology of the Cogan-Reese syndrome].
Topics: Atrophy; Basement Membrane; Endothelium; Female; Follow-Up Studies; Glaucoma, Angle-Closure; Humans; | 1990 |
[Exfoliative materials in the skin of patients with exfoliation syndrome].
Topics: Aged; Aged, 80 and over; Anterior Eye Segment; Eye Diseases; Female; Humans; Iris; Male; Microscopy, | 1990 |
[Exfoliation syndrome: clinical study of the irido-corneal angle].
Topics: Aged; Aged, 80 and over; Anterior Eye Segment; Cornea; Female; Humans; Intraocular Pressure; Iris; M | 1990 |
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.
Topics: Abnormalities, Multiple; Blindness; Child; Coloboma; Cytogenetics; Deafness; Female; Humans; Iris; M | 1990 |
Posterior axial corneal malformation and uveoretinal angiodysgenesis--a neurocristopathy?
Topics: Abnormalities, Multiple; Choroid; Ciliary Body; Cornea; Endothelium, Corneal; Female; Humans; Infant | 1990 |
Combined exfoliation and pigment dispersion syndrome.
Topics: Anterior Eye Segment; Eye Diseases; Female; Humans; Intraocular Pressure; Iris; Male; Middle Aged; P | 1990 |
Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye.
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 10; Chromosomes, Human, Pair 4; Eye Abnormalities; | 1990 |
A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance.
Topics: Abnormalities, Multiple; Adolescent; Bone and Bones; Child; Facial Bones; Female; Fundus Oculi; Glau | 1990 |
Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Child, Preschool; Cleft Palate; Coloboma; Facial B | 1990 |
[Iris nevus (Cogan-Reese) syndrome--clinicopathological correlations].
Topics: Endothelium, Corneal; Female; Humans; Iris; Iris Neoplasms; Microscopy, Electron; Middle Aged; Nevus | 1990 |
Indications for laser iridotomy in the diurnal shunt syndrome disputed.
Topics: Arteriovenous Fistula; Choroid Diseases; Ciliary Body; Glaucoma, Angle-Closure; Humans; Iris; Laser | 1990 |
Immunogold localisation of laminin in normal and exfoliative iris.
Topics: Adult; Aged; Aged, 80 and over; Epithelium; Female; Glaucoma; Humans; Immunohistochemistry; Iris; Ir | 1990 |
Culture of iris tissue from human eyes with and without pseudoexfoliation.
Topics: Anterior Eye Segment; Cell Survival; Cells, Cultured; Culture Techniques; Eye Diseases; Humans; Iris | 1990 |
Generalized peripheral iris transluminance in the pseudoexfoliation syndrome.
Topics: Aged; Aged, 80 and over; Anterior Eye Segment; Cataract; Female; Glaucoma; Humans; Iris; Lens Diseas | 1990 |
Fluorescein angiography of the iris in anterior segment pigment dispersal syndrome.
Topics: Cell Count; Cornea; Endothelium; Eye Color; Fluorescein Angiography; Iris; Iris Diseases; Neovascula | 1986 |
The spectrum of clinical features in CHARGE syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Central Nervous System Diseases; Child, Preschool; Choan | 1986 |
Essential iris atrophy. A clinical, immunohistologic, and electron microscopic study in an enucleated eye.
Topics: Actins; Adult; Atrophy; Corneal Diseases; Endothelium, Corneal; Female; Glaucoma; Humans; Immunohist | 1988 |
Limb anomalies in the CHARGE association.
Topics: Abnormalities, Multiple; Anus, Imperforate; Choanal Atresia; Coloboma; Developmental Disabilities; F | 1989 |
The gene for catalase is assigned between the antigen loci MIC4 and MIC11.
Topics: Antigens; Catalase; Child; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; Fem | 1989 |
Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.
Topics: Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 4; Cl | 1989 |
Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13.
Topics: Adult; Blotting, Southern; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Ch | 1989 |
Cat eye syndrome associated with aganglionosis of the small and large intestine.
Topics: Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 22; Coloboma; Ganglia, Parasy | 1989 |
Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association.
Topics: Abnormalities, Multiple; Adolescent; Cleft Palate; Coloboma; Dwarfism; Ear; Follow-Up Studies; Heari | 1989 |
Rieger's eye anomaly and persistent hyperplastic primary vitreous.
Topics: Adolescent; Adult; Anterior Chamber; Cataract; Eye Diseases; Female; Humans; Iris; Male; Middle Aged | 1989 |
Pigmentary dispersion syndrome subsequent IOL implantation in P.C.
Topics: Ciliary Body; Glaucoma, Open-Angle; Humans; Incidence; Intraocular Pressure; Iris; Lenses, Intraocul | 1989 |
Penetrating keratoplasty in the management of iridocorneal endothelial syndrome.
Topics: Adult; Aged; Atrophy; Cataract Extraction; Corneal Diseases; Corneal Transplantation; Endothelium, C | 1989 |
Ocular findings in arteriohepatic dysplasia (Alagille's syndrome).
Topics: Adult; Cholestasis; Chronic Disease; Cornea; Corneal Diseases; Face; Humans; Iris; Male; Pulmonary A | 1989 |
Retinal detachment in Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Cornea; Female; Glaucoma; Humans; Iris; Male; Retinal De | 1989 |
Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn).
Topics: Anterior Chamber; Autoradiography; Cataract; Chromosome Deletion; Chromosomes, Human, Pair 4; DNA; E | 1989 |
Pseudoexfoliation syndrome in Chinese.
Topics: Aged; Aged, 80 and over; Anterior Eye Segment; China; Eye Diseases; Female; Glaucoma; Humans; Intrao | 1989 |
[WAGR syndrome, Wilms' tumor, aniridia, gonadoblastoma, mental retardation: a review apropos of 2 cases].
Topics: Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; Chromosomes, Human, Pair 11; Disor | 1987 |
Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids.
Topics: Animals; Cell Separation; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 11; DNA; | 1988 |
Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness.
Topics: Acidosis, Renal Tubular; Adult; Consanguinity; Deafness; Diabetes Mellitus, Type 1; Genes, Recessive | 1987 |
[The aniridia-Wilms' tumor syndrome: a familial case].
Topics: Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 11; Female; Humans; Infant; Iris; Ki | 1987 |
Molecular analysis of the aniridia--Wilms' tumor syndrome.
Topics: Chromosome Mapping; Chromosomes, Human, Pair 11; Genetic Markers; Humans; Iris; Kidney Neoplasms; Sy | 1988 |
Long range physical map of the Wilms' tumor-aniridia region on human chromosome 11.
Topics: Chromosome Mapping; Chromosomes, Human, Pair 11; DNA Probes; Electrophoresis, Agar Gel; Genetic Link | 1988 |
Molecular mapping and cloning of the breakpoints of a chromosome 11p14.1-p13 deletion associated with the AGR syndrome.
Topics: Cell Line; Chromosome Deletion; Chromosomes, Human, Pair 11; Cloning, Molecular; DNA; Electrophoresi | 1988 |
Localization of the oncogene c-Ha-ras1 outside the aniridia-Wilms' tumor-associated deletion of chromosome 11(del 11p13) using somatic cell hybrids.
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Congenital Abnormalities; Humans; Iris; Male; O | 1985 |
Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.
Topics: Antigens, Surface; Calcitonin; Catalase; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human | 1985 |
[Terminal renal failure in aniridia-Wilms syndrome].
Topics: Adult; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 1 | 1986 |
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.
Topics: Animals; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 11; Cloning, Molecular; D | 1987 |
[A case of aniridia-Wilms' tumor syndrome].
Topics: Chromosome Deletion; Chromosomes, Human, Pair 11; Female; Humans; Infant; Iris; Kidney Neoplasms; Sy | 1987 |
Peters' anomaly as a consequence of genetic and nongenetic syndromes.
Topics: Abnormalities, Multiple; Child, Preschool; Cornea; Corneal Transplantation; Eye; Eye Abnormalities; | 1986 |
Additional eye findings in a girl with the velo-cardio-facial syndrome.
Topics: Abnormalities, Multiple; Child; Coloboma; Eye Abnormalities; Facial Asymmetry; Female; Heart Defects | 1986 |
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.
Topics: Coloboma; Consanguinity; Female; Hirschsprung Disease; Humans; Infant, Newborn; Iris; Male; Microcep | 1988 |
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.
Topics: Abnormalities, Multiple; Cerebellar Ataxia; Child; Humans; Intellectual Disability; Iris; Male; Synd | 1988 |
[The iridocorneo-endothelial syndrome].
Topics: Adolescent; Atrophy; Endothelium, Corneal; Glaucoma, Open-Angle; Humans; Iris; Iris Diseases; Male; | 1988 |
Aniridia, ectopia lentis, abnormal upper incisors and mental retardation--an autosomal recessive syndrome.
Topics: Adolescent; Consanguinity; Ectopia Lentis; Humans; Incisor; Intellectual Disability; Iris; Lens Subl | 1988 |
Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.
Topics: Abnormalities, Multiple; Anus, Imperforate; Child, Preschool; Chromosome Banding; Chromosomes, Human | 1988 |
An experimental model for uveal touch syndrome.
Topics: Animals; Cataract Extraction; Cats; Disease Models, Animal; Inflammation; Iris; Iris Diseases; Iriti | 1988 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
Topics: Abnormalities, Multiple; Blepharoptosis; Body Height; Bone Diseases, Developmental; Child; Child, Pr | 1988 |
Charge association vs. velo-cardio-facial syndrome.
Topics: Abnormalities, Multiple; Heart Defects, Congenital; Humans; Iris; Retina; Syndrome; Terminology as T | 1988 |
Pigment dispersion syndrome associated with silicone posterior chamber intraocular lenses.
Topics: Aged; Female; Humans; Intraocular Pressure; Iris; Lenses, Intraocular; Male; Middle Aged; Silicones; | 1988 |
Ophthalmic midline dysgenesis in Kallmann syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Coloboma; Humans; Hypogonadism; Iris; Lacrimal Apparatus | 1987 |
[Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome].
Topics: Adolescent; Adult; Choroid; Coloboma; Dwarfism; Female; Humans; Intellectual Disability; Iris; Male; | 1987 |
[Electron microscopic studies on the lens of exfoliation syndrome. II. On the non-exfoliated fellow eye].
Topics: Aged; Aged, 80 and over; Female; Humans; Iris; Lens Diseases; Lens, Crystalline; Male; Microscopy, E | 1987 |
Re-evaluation of the supernumerary chromosome in an individual with cat eye syndrome.
Topics: Abnormalities, Multiple; Aneuploidy; Anus, Imperforate; Chromosomes, Human, Pair 22; Coloboma; Genet | 1987 |
[Irido-corneal endothelial syndrome apropos of a case of essential atrophy of the iris].
Topics: Adult; Atrophy; Corneal Dystrophies, Hereditary; Humans; Iris; Male; Ocular Hypertension; Syndrome | 1986 |
Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity.
Topics: Abnormalities, Multiple; Adolescent; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1987 |
[Axenfeld-Rieger syndrome--a report of 10 cases].
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Cornea; Diagnosis, Differential; Female; Glaucoma | 1987 |
Histopathologic study of ocular changes in a syndrome of multiple congenital anomalies.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Coloboma; Humans; Infant; Iris; Male; Optic Ne | 1987 |
Specular microscopy in aniridia.
Topics: Adolescent; Adult; Aged; Cornea; Corneal Diseases; Endothelium; Female; Humans; Iris; Iris Diseases; | 1987 |
Histopathology of abnormalities of the anterior chamber with glaucoma.
Topics: Adult; Anterior Chamber; Cornea; Epithelium; Female; Glaucoma; Humans; Iris; Neural Crest; Syndrome; | 1986 |
[A new iridocorneal endothelial syndrome].
Topics: Atrophy; Collagen; Cornea; Corneal Diseases; Descemet Membrane; Endothelium; Humans; Iris; Iris Dise | 1987 |
[Ophthalmologic findings in 11 q-deletion syndrome].
Topics: Blepharoptosis; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 11; Coloboma; Eye Di | 1987 |
Pathogenesis of Chandler's syndrome, essential iris atrophy and the Cogan-Reese syndrome. I. Alterations of the corneal endothelium.
Topics: Adolescent; Adult; Aged; Atrophy; Cell Nucleus; Child; Child, Preschool; Cornea; Corneal Diseases; C | 1986 |
Pathogenesis of Chandler's syndrome, essential iris atrophy and the Cogan-Reese syndrome. II. Estimated age at disease onset.
Topics: Adult; Age Factors; Atrophy; Corneal Diseases; Corneal Stroma; Descemet Membrane; Female; Humans; Ir | 1986 |
Pseudophakic posterior iris chafing syndrome.
Topics: Aged; Female; Glaucoma; Humans; Hyphema; Iris; Iritis; Lenses, Intraocular; Microscopy, Electron, Sc | 1986 |
Inverted duplication of 22pter----q11.21 in cat-eye syndrome.
Topics: Abnormalities, Multiple; Anus, Imperforate; Branchial Region; Chromosome Aberrations; Chromosome Inv | 1986 |
Clinical signs of the pseudoexfoliation syndrome.
Topics: Anterior Chamber; Anterior Eye Segment; Ciliary Body; Cornea; Eye Diseases; Female; Humans; Iris; Le | 1986 |
Lectin binding to pseudoexfoliative material and the ocular zonules.
Topics: Anterior Eye Segment; Eye; Eye Diseases; Humans; Iris; Lens Capsule, Crystalline; Receptors, Mitogen | 1986 |
Czarnecki's sign as the initial finding in acquired oculomotor synkinesis.
Topics: Adult; Eye Movements; Humans; Iris; Male; Oculomotor Nerve; Ophthalmoplegia; Syndrome | 1986 |
The corneal endothelium and Descemet's membrane in the iridocorneal endothelial syndrome.
Topics: Adult; Atrophy; Cornea; Corneal Diseases; Descemet Membrane; Endothelium; Female; Glaucoma; Humans; | 1985 |
Cat's eye syndrome with cleft soft palate.
Topics: Abnormalities, Multiple; Child, Preschool; Cleft Palate; Coloboma; Genetic Markers; Humans; Iris; Ma | 1985 |
Oral manifestations of the Rieger syndrome: report of case.
Topics: Adult; Anodontia; Anterior Eye Segment; Female; Fluorosis, Dental; Humans; Infant; Iris; Male; Pedig | 1985 |
Marker chromosome in cat eye syndrome.
Topics: Anus, Imperforate; Chromosome Aberrations; Coloboma; Female; Genetic Markers; Humans; Iris; Male; Sy | 1985 |
Clinical features of the irido-corneal endothelial syndrome.
Topics: Adult; Atrophy; Cornea; Corneal Diseases; Endothelium; Female; Humans; Intraocular Pressure; Iris; I | 1985 |
[Specular microscopy in the diagnosis of the iridocorneal endothelial syndrome].
Topics: Adult; Aged; Atrophy; Cell Count; Cornea; Corneal Diseases; Corneal Dystrophies, Hereditary; Diagnos | 1985 |
[Congenital ectropion of the iris epithelium and glaucoma].
Topics: Anterior Chamber; Blepharoptosis; Child; Ectropion; Eyelid Neoplasms; Facial Bones; Glaucoma; Humans | 1985 |
Goniodysgenesis in elderly glaucoma and non-glaucoma patients. A masked slit-lamp and gonioscopy study.
Topics: Aged; Anterior Chamber; Cornea; Eye Diseases; Glaucoma; Gonioscopy; Humans; Intraocular Pressure; Ir | 1986 |
The Marinesco-Sjögren syndrome: polygraphic study of nocturnal sleep.
Topics: Adolescent; Adult; Cataract; Cerebellar Ataxia; Child; Choroid; Coloboma; Electromyography; Humans; | 1985 |
[Fitting of extended-wear contact lenses in mesodermal dysgenesis of the anterior eye segment].
Topics: Adult; Anterior Eye Segment; Contact Lenses; Cornea; Female; Humans; Iris; Pedigree; Syndrome | 1985 |
[Dysplasia of the corneal limbus, the mesodermal iris layer and the jaw skeleton in a family].
Topics: Adult; Blindness; Cornea; Female; Glaucoma; Humans; Iris; Male; Maxillofacial Development; Micrognat | 1985 |
Surgical revision of vitreous and iris-incarceration in persisting cystoid maculopathy (Hruby-Irvine-Gass-syndrome)--report on 27 eyes.
Topics: Adult; Aged; Cataract Extraction; Female; Humans; Intraoperative Complications; Iris; Macular Edema; | 1985 |
The iris vessels in the exfoliation syndrome: ultrastructural changes.
Topics: Aged; Amyloid; Basement Membrane; Blood Vessels; Collagen; Female; Humans; Iris; Lens Diseases; Micr | 1985 |
Rieger's and Williams syndrome. A rare clinical case.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Child; Coloboma; Dentition; Female; Genes, Dominant; | 1985 |
Anophthalmos and first branchial arch defects.
Topics: Abnormalities, Multiple; Anophthalmos; Branchial Region; Coloboma; Ear; Humans; Infant; Iris; Jaw Ab | 1985 |
[An unexplained syndrom with eye and tooth defects (author's transl)].
Topics: Abnormalities, Multiple; Adolescent; Adult; Corneal Opacity; Dental Enamel Hypoplasia; DMF Index; Ey | 1974 |
Agenesis of the corpus callosum in the median facial cleft syndrome and associated ocular malformations.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Coloboma; Cornea; Craniofacial Dysostosis; Ecz | 1973 |
Ocular histopathology of Norrie's disease.
Topics: Abnormalities, Multiple; Blindness; Eye; Eye Abnormalities; Genes, Recessive; Hearing Disorders; Hum | 1974 |
The cat eye syndrome.
Topics: Anus, Imperforate; Body Weight; Cephalometry; Chromosome Aberrations; Chromosome Disorders; Chromoso | 1974 |
The familial association of neurofibromatosis, peroneal muscular atrophy, congenital deafness, partial albinism, and Axenfeld's defect.
Topics: Adult; Albinism; Congenital Abnormalities; Corneal Opacity; Deafness; Electromyography; Female; Fund | 1974 |
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).
Topics: Abnormalities, Multiple; Adolescent; Adult; Agenesis of Corpus Callosum; Anencephaly; Blood Glucose; | 1974 |
[Irvine-Gass syndrome. IV. Etiology. V. Pathogenesis. VI. Treatment].
Topics: Adult; Age Factors; Aged; Cataract Extraction; Chymotrypsin; Cornea; Edema; Eye Diseases; Female; Hu | 1972 |
[Congenital glaucoma-juvenile glaucoma].
Topics: Abnormalities, Multiple; Adolescent; Adult; Age Factors; Cornea; Corneal Opacity; Diagnosis, Differe | 1974 |
Wilm's-aniridia syndrome with transient hypo-gamma-globulinaemia of infancy.
Topics: Agammaglobulinemia; Cataract; Child, Preschool; Diet Therapy; Ear, External; Eczema; Hematuria; Huma | 1973 |
Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.
Topics: Abnormalities, Multiple; Cataract; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; C | 1974 |
[Wilms' tumor and aniridia--a genetically determined syndrome?].
Topics: Abnormalities, Multiple; Cryptorchidism; Humans; Infant; Intellectual Disability; Iris; Kidney Neopl | 1972 |
Exfoliation syndrome.
Topics: Aged; Biopsy; Ciliary Body; Conjunctiva; Dilatation; Eye Diseases; Female; Glaucoma; Gonioscopy; Hum | 1974 |
Dominantly inherited aniridia associated with mental retardation and other eye abnormalities.
Topics: Adolescent; Female; Genes, Dominant; Glaucoma; Humans; Intellectual Disability; Iris; Lens, Crystall | 1974 |
[Congenital glaucoma caused by mesodermic dysgenesis of the cornea and iris].
Topics: Cornea; Female; Glaucoma; Humans; Infant; Iris; Syndrome | 1974 |
[Congenital hypodontia combined with Rieger's syndrome].
Topics: Abnormalities, Multiple; Anodontia; Child; Cornea; Eye Diseases; Humans; Iris; Male; Syndrome | 1973 |
Dual origin of glaucoma in encephalotrigeminal haemangiomatosis.
Topics: Adolescent; Angiomatosis; Ciliary Body; Female; Fluorescein Angiography; Glaucoma; Gonioscopy; Heman | 1973 |
Light and electron microscopy of the anterior iris surface in eyes with and without pseudo-exfoliation syndrome.
Topics: Aged; Cytoplasmic Granules; Eye Diseases; Glaucoma; Humans; Iris; Microscopy, Electron; Middle Aged; | 1973 |
Keratoconus and Chandler's syndrome.
Topics: Acetazolamide; Adult; Atrophy; Corneal Dystrophies, Hereditary; Edema; Epinephrine; Eye Diseases; Fl | 1974 |
[Familial iridoschisis complicated with cornea guttata].
Topics: Adult; Aged; Corneal Dystrophies, Hereditary; Eye Diseases; Female; Humans; Iris; Pigmentation; Synd | 1974 |
Anterior chamber cleavage syndrome. A typical case of Peters' anomaly with primary aphakia.
Topics: Abnormalities, Multiple; Anterior Chamber; Cornea; Corneal Opacity; Descemet Membrane; Eye Abnormali | 1972 |
Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome.
Topics: Abnormalities, Multiple; Adult; Brain; Child, Preschool; Craniofacial Dysostosis; Eye Abnormalities; | 1973 |
[Agenesis of the corpus callosum, median facial fissure syndrome, and eye malformations].
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Choroid; Coloboma; Cornea; Craniofacial Dysost | 1972 |
Short stature, mental retardation and ocular alterations in three siblings.
Topics: Adolescent; Cataract; Child; Chromosome Aberrations; Chromosome Disorders; Eye Diseases; Facial Expr | 1972 |
[Malformation-retardation syndrome with lobster claws, coloboma of the iris, renal agenesia and ventricular septal defect].
Topics: Abnormalities, Multiple; Coloboma; Foot Deformities, Congenital; Hand Deformities, Congenital; Heart | 1972 |
[Syndrome of the 1st branchial arch].
Topics: Abnormalities, Multiple; Adult; Coloboma; Dermoid Cyst; Eye Neoplasms; Humans; Intellectual Disabili | 1973 |
Capsular exfoliation syndrome.
Topics: Aged; Blindness; Cataract; Cataract Extraction; Eye Diseases; Genes; Glaucoma; Humans; Iris; Lens, C | 1973 |
The Marfan syndrome. A histopathologic study of ocular findings.
Topics: Anterior Chamber; Autopsy; Basement Membrane; Child; Ciliary Body; Cornea; Epithelium; Eye; Eye Mani | 1973 |
Congenital cardiac disease and the "cat eye" syndrome.
Topics: Abnormalities, Multiple; Adolescent; Anal Canal; Azygos Vein; Child; Child, Preschool; Choroid; Chro | 1973 |
[Clinical aspects of the so-called exfoliation syndrome].
Topics: Age Factors; Austria; Eye Diseases; Glaucoma; Gonioscopy; Humans; Iris; Lens, Crystalline; Microscop | 1973 |
Ocular pathology in trisomy 18(Edwards' syndrome).
Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, 16-18; Coloboma; Cysts; Epithelium; Eye; Eye Dis | 1973 |
[Identification of the small submetacentric supernumerary chromosome in the cat's-eye syndrome].
Topics: Adult; Choroid; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Colobo | 1973 |
Schmid-Fraccaro syndrome ("cat's eye" syndrome).
Topics: Abnormalities, Multiple; Adolescent; Anus, Imperforate; Cataract; Child; Choroid; Coloboma; Craniofa | 1973 |
Heterochromia iridum with coloboma of the optic disc.
Topics: Cataract; Cataract Extraction; Coloboma; Eye Diseases; Female; Fundus Oculi; Humans; Iris; Middle Ag | 1973 |
Pupillary-block glaucoma in the Marchesani syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Body Constitution; Dilatation; Eye Diseases; Femal | 1973 |
[Clinical and morphological studies in patients with Fuchs' syndrome].
Topics: Adolescent; Adult; Conjunctivitis; Eye Diseases; Female; Gonioscopy; Humans; Hypersensitivity; Infla | 1973 |
[The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome (author's transl)].
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Coloboma; Congenital Abnormalities; Cornea; Diagno | 1973 |
Cataract extraction in Fuchs syndrome.
Topics: Adolescent; Adult; Atrophy; Cataract; Cataract Extraction; Ciliary Body; Eye Diseases; Female; Glauc | 1974 |
Unusual aspects of progressive essential iris atrophy.
Topics: Abnormalities, Multiple; Adult; Angiography; Atrophy; Cornea; Diagnosis, Differential; Eye Diseases; | 1974 |
Iridogoniodysgenesis with cornea globosa. A clinical case report.
Topics: Adult; Anterior Chamber; Cornea; Humans; Iris; Male; Syndrome | 1974 |
[Hemiatrophia progressiva faciei (Romberg-syndrome) associated with heterochromia complicata (Fuchs-syndrome) (author's transl)].
Topics: Adult; Corneal Opacity; Facial Hemiatrophy; Female; Humans; Iris; Keratoconjunctivitis; Middle Aged; | 1974 |
Case report. The cat-eye syndrome with unusual skeletal malformations.
Topics: Abnormalities, Multiple; Anus, Imperforate; Arm; Chromosome Aberrations; Chromosome Disorders; Chrom | 1974 |
Ocular pathology of Trisomy 18.
Topics: Abnormalities, Multiple; Chromatin; Chromosomes, Human, 16-18; Cornea; Descemet Membrane; Epithelium | 1971 |
Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case.
Topics: Abnormalities, Multiple; Cornea; Ectodermal Dysplasia; Eye Abnormalities; Humans; Intellectual Disab | 1971 |
Ocular manifestations of subacute necrotizing encephalomyelopathy (Leigh's disease).
Topics: Autopsy; Blepharoptosis; Brain Stem; Child, Preschool; Encephalomalacia; Epithelium; Eye Diseases; E | 1972 |