2-propanol has been researched along with Microphthalmia in 94 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.
Excerpt | Relevance | Reference |
---|---|---|
"We report a patient with clinical anophthalmia, partial eyelid fusion and a hypoplastic socket on the right." | 2.48 | Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review. ( Aaberg, TM; Droste, PJ; Hassan, AS; Pearce, ZD, 2012) |
"Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and developmental delay." | 1.72 | Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient. ( Gu, W; Huang, Y; Xu, K; Zhou, Y, 2022) |
"Complete deficiency of microphthalmia transcription factor (MITF) in Mitfmi-vga9/mi-vga9 mice is associated with microphthalmia, retinal dysplasia, and albinism." | 1.48 | Partial Rescue of Ocular Pigment Cells and Structure by Inducible Ectopic Expression of Mitf-M in MITF-Deficient Mice. ( Arnheiter, H; Bharti, K; Bunda, P; Campos, MM; Chin, S; Day, CP; Graff-Cherry, C; Habtemichael, AD; Merlino, G; Michael, HT; Rauck, C; Smith, T, 2018) |
"PurposeAicardi syndrome is a rare disorder, affecting ~1 in 100 000 live births." | 1.43 | A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings. ( McKee, S; McLoone, E; O'Keefe, M; Shirley, K, 2016) |
"Autosomal dominant microphthalmia with late-onset keratitis and iris coloboma/aniridia has not been reported before." | 1.38 | Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. ( Li, S; Xiao, X; Zhang, Q, 2012) |
"Klinefelter syndrome is caused by the presence of one or more additional X chromosomes in an affected male." | 1.38 | Ocular anomalies in an infant with Klinefelter Syndrome. ( Juhn, AT; Levin, AV; Nabi, NU, 2012) |
"Seventy-five percent of the colobomata were atypical, showing a nasal superior location in 56%." | 1.35 | A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. ( Abouzeid, H; Bolay, S; ElShakankiri, N; Meire, FM; Munier, FL; Osman, I; Schorderet, DF, 2009) |
"Iris coloboma is particularly important in terms of perinatal diagnosis because its detection in the newborn requires a careful and regular examination of the lens." | 1.34 | New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. ( Beby, F; Bozon, M; Commeaux, C; Denis, P; Edery, P; Morlé, L, 2007) |
"The glaucoma was controlled in 9 of 17 eyes at the early stage, which underwent laser iridotomy (4 of 9 eyes also underwent laser iridoplasty)." | 1.31 | The management of secondary glaucoma in nanophthalmic patients. ( Huang, S; Qiu, C; Ye, T; Yu, M, 2002) |
"We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length." | 1.31 | Five cases of microphthalmia with other ocular malformations. ( Choi, HY; Kim, HJ; Lee, JE; Lee, JS; Oum, BS; Shin, YG, 2001) |
"A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye." | 1.30 | Focal dermal hypoplasia (Goltz's syndrome). ( Erden, I; Günalp, I; Gündüz, K, 1997) |
"To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome." | 1.29 | Blepharophimosis syndrome: association with colobomatous microphthalmos. ( Lee, LR; Sullivan, TJ, 1995) |
"High myopia was more common in the less severe anomalies." | 1.29 | Optic disc in fundus coloboma. ( Badrinath, SS; Biswas, N; Doshi, G; Gopal, L; Kumar, KS, 1996) |
"The left eye was microphthalmic with a coloboma of the uveal tract and retina." | 1.28 | Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body. ( Davidorf, FH; Makley, TA; Mauger, TF; Rogers, GL, 1992) |
"Two had bilateral anophthalmia, the optic nerves not detectable by computed cranial tomography and magnetic resonance imaging, and the third child had bilateral microphthalmia and coloboma iridis." | 1.28 | New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders. ( Bierich, JR; Christie, M; Heinrich, JJ; Martinez, AS, 1991) |
"Microphthalmia with coloboma behaves as an incompletely penetrant recessive trait in the merle Australian Shepherd dog." | 1.26 | Inheritance of microphthalmia with coloboma in the Australian shepherd dog. ( Gelatt, KN; Huston, K; Powell, NG, 1981) |
"Ophthalmological examination revealed microphthalmia, bilateral colobomas of iris, leukoma of the right eye, convergent strabismus in the left eye." | 1.26 | [Double optic papilla in eye coloboma (author's transl)]. ( Junge, J, 1978) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 51 (54.26) | 18.7374 |
1990's | 14 (14.89) | 18.2507 |
2000's | 10 (10.64) | 29.6817 |
2010's | 16 (17.02) | 24.3611 |
2020's | 3 (3.19) | 2.80 |
Authors | Studies |
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Yang, JF | 1 |
Roohipourmoallai, R | 1 |
Straughn, PE | 1 |
Sherwood, MB | 1 |
Agarwal-Sinha, S | 1 |
Zori, RT | 1 |
Iyer, SSR | 1 |
Zhou, Y | 1 |
Xu, K | 1 |
Gu, W | 1 |
Huang, Y | 1 |
Courdier, C | 1 |
Gemahling, A | 1 |
Guindolet, D | 1 |
Barjol, A | 1 |
Scaramouche, C | 1 |
Bouneau, L | 1 |
Calvas, P | 1 |
Martin, G | 1 |
Chassaing, N | 1 |
Plaisancié, J | 1 |
de Paula Freitas, B | 1 |
Zin, A | 1 |
Ko, A | 1 |
Maia, M | 1 |
Ventura, CV | 1 |
Belfort, R | 1 |
Abdel-Salam, GMH | 1 |
Abdel-Hamid, MS | 1 |
Mehrez, MI | 1 |
Kamal, AM | 1 |
Taher, MB | 1 |
Afifi, HH | 1 |
Sarioglu, FAO | 1 |
Tasci, YY | 1 |
Kurtul, BE | 1 |
Boluk, SO | 1 |
Michael, HT | 1 |
Graff-Cherry, C | 1 |
Chin, S | 1 |
Rauck, C | 1 |
Habtemichael, AD | 1 |
Bunda, P | 1 |
Smith, T | 1 |
Campos, MM | 1 |
Bharti, K | 1 |
Arnheiter, H | 1 |
Merlino, G | 1 |
Day, CP | 1 |
Kim, S | 1 |
Thomasy, SM | 1 |
Raghunathan, VK | 1 |
Teixeira, LBC | 1 |
Moshiri, A | 1 |
FitzGerald, P | 1 |
Murphy, CJ | 1 |
Guo, C | 1 |
Zhao, Z | 1 |
Zhang, D | 1 |
Liu, J | 1 |
Li, J | 1 |
Zhang, J | 1 |
Sun, N | 1 |
Chen, D | 1 |
Zhang, M | 1 |
Fan, Z | 1 |
Samuelson, TW | 1 |
Huang, J | 1 |
Ling, Y | 1 |
Lin, M | 1 |
Wu, Z | 1 |
Cheng, B | 1 |
Ge, J | 1 |
Beby, F | 2 |
Shirley, K | 1 |
O'Keefe, M | 1 |
McKee, S | 1 |
McLoone, E | 1 |
Pontoriero, GF | 1 |
Smith, AN | 1 |
Miller, LA | 1 |
Radice, GL | 1 |
West-Mays, JA | 1 |
Lang, RA | 1 |
Abouzeid, H | 1 |
Meire, FM | 1 |
Osman, I | 1 |
ElShakankiri, N | 1 |
Bolay, S | 1 |
Munier, FL | 1 |
Schorderet, DF | 1 |
Xiao, X | 1 |
Li, S | 2 |
Zhang, Q | 1 |
Dumitrescu, AV | 1 |
Milunsky, JM | 1 |
Longmuir, SQ | 1 |
Drack, AV | 1 |
Juhn, AT | 1 |
Nabi, NU | 1 |
Levin, AV | 1 |
Pearce, ZD | 1 |
Droste, PJ | 1 |
Aaberg, TM | 1 |
Hassan, AS | 1 |
Seki, M | 1 |
Fukuchi, T | 1 |
Ueda, J | 1 |
Suda, K | 1 |
Nakatsue, T | 1 |
Tanaka, Y | 1 |
Togano, T | 1 |
Yamamoto, S | 1 |
Hara, H | 1 |
Abe, H | 1 |
Crosby, NJ | 1 |
McDonnell, P | 1 |
Shah, P | 1 |
FUJITSU, M | 1 |
Müllner-Eidenböck, A | 1 |
Moser, E | 1 |
Klebermass, N | 1 |
Amon, M | 1 |
Walter, MC | 1 |
Lochmüller, H | 1 |
Gooding, R | 1 |
Kalaydjieva, L | 1 |
Huang, S | 1 |
Yu, M | 1 |
Qiu, C | 1 |
Ye, T | 1 |
Commeaux, C | 1 |
Bozon, M | 1 |
Denis, P | 1 |
Edery, P | 1 |
Morlé, L | 1 |
Goldowitz, D | 1 |
Swanson, DJ | 1 |
Zhang, Y | 1 |
Overbeek, PA | 1 |
Govindarajan, V | 1 |
O'Neill, JF | 2 |
Stroeva, OG | 1 |
Mitashov, VI | 1 |
Rousselie, F | 1 |
Munroe, GA | 1 |
Barnett, KC | 2 |
Lillquist, K | 1 |
Warburg, M | 2 |
Andersen, SR | 1 |
Hägerstrand, I | 1 |
BenEzra, D | 1 |
Frucht, Y | 1 |
Singh, OS | 2 |
Simmons, RJ | 2 |
Brockhurst, RJ | 1 |
Trempe, CL | 1 |
Radhakrishnan, N | 1 |
Gelatt, KN | 4 |
Powell, NG | 1 |
Huston, K | 1 |
Lee, LR | 1 |
Sullivan, TJ | 1 |
Schrander-Stumpel, CT | 1 |
De Groot-Wijnands, JB | 1 |
De Die-Smulders, C | 1 |
Fryns, JP | 1 |
Williams, DL | 1 |
Lee, BL | 1 |
Bateman, JB | 1 |
Schwartz, SD | 1 |
Fledelius, HC | 1 |
Gopal, L | 1 |
Badrinath, SS | 1 |
Kumar, KS | 1 |
Doshi, G | 1 |
Biswas, N | 1 |
Clementi, M | 1 |
Tenconi, R | 1 |
Bianchi, F | 1 |
Botto, L | 1 |
Calabro, A | 1 |
Calzolari, E | 1 |
Cianciulli, D | 1 |
Mammi, I | 1 |
Mastroiacovo, P | 1 |
Meli, P | 1 |
Spagnolo, A | 1 |
Turolla, L | 1 |
Volpato, S | 1 |
Gündüz, K | 1 |
Günalp, I | 1 |
Erden, I | 1 |
Can, B | 1 |
Krohn, J | 1 |
Seland, JH | 1 |
Bone-Larson, C | 1 |
Basu, S | 1 |
Radel, JD | 1 |
Liang, M | 1 |
Perozek, T | 1 |
Kapousta-Bruneau, N | 1 |
Green, DG | 1 |
Burmeister, M | 1 |
Hankin, MH | 1 |
Lee, JS | 1 |
Lee, JE | 1 |
Shin, YG | 1 |
Choi, HY | 1 |
Oum, BS | 1 |
Kim, HJ | 1 |
Khaw, PT | 1 |
Hiles, DA | 1 |
Biglan, AW | 1 |
Sheridan, SJ | 1 |
Judisch, GF | 1 |
Martin-Casals, A | 1 |
Hanson, JW | 1 |
Olin, WH | 1 |
Kazam, ES | 1 |
Junge, J | 1 |
Jakobiec, FA | 1 |
Yanoff, M | 2 |
Mottow, L | 1 |
Anker, P | 1 |
Jones, IS | 1 |
Mallek, DR | 1 |
Oliver, M | 1 |
Calhoun, FP | 1 |
Mauger, TF | 1 |
Makley, TA | 1 |
Davidorf, FH | 1 |
Rogers, GL | 1 |
Bierich, JR | 1 |
Christie, M | 1 |
Heinrich, JJ | 1 |
Martinez, AS | 1 |
Tommerup, N | 1 |
Vestermark, S | 1 |
Parving, A | 1 |
Weismann, K | 1 |
Russell, B | 1 |
Thomsen, HK | 1 |
Jin, JC | 1 |
Anderson, DR | 1 |
Varley, GA | 1 |
Beauchamp, GR | 1 |
Meisler, DM | 1 |
Belcher, CD | 1 |
Pearce, WG | 1 |
Latimer, CA | 1 |
Wyman, M | 1 |
de Elejalde, MM | 1 |
Elejalde, BR | 1 |
West, JD | 1 |
Fisher, G | 1 |
Loutit, JF | 1 |
Marshall, MJ | 1 |
Nisbet, NW | 1 |
Perry, VH | 1 |
Massey, JY | 1 |
Roy, FH | 2 |
Hervouët, F | 1 |
Jensen, OA | 2 |
Burow, B | 1 |
Theile, U | 1 |
Aguirre, G | 1 |
MacRae, DW | 1 |
Howard, RO | 1 |
Albert, DM | 1 |
Hsia, YE | 1 |
Holmark, J | 1 |
Boniuk, V | 1 |
McGill, LD | 1 |
Petersen, RA | 1 |
Say, B | 1 |
Balci, S | 1 |
Atasu, M | 1 |
Townsend, WM | 1 |
Font, RL | 2 |
Zimmerman, LE | 1 |
Hiatt, RL | 1 |
Korones, SB | 1 |
Roane, J | 1 |
Sörgel, HJ | 1 |
Heidrich, R | 1 |
Batra, DV | 1 |
Paul, SD | 1 |
Francois, J | 1 |
Collum, LM | 1 |
Cordier, J | 1 |
Reny, A | 1 |
Kahn, N | 1 |
Weiss, DI | 1 |
Ziring, PR | 1 |
Cooper, LZ | 1 |
Mullaney, J | 1 |
Fraser, GR | 1 |
Klein, D | 1 |
Deol, MS | 1 |
Hertzberg, R | 1 |
Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
---|---|---|---|---|---|---|---|
Biometric Characteristics Of The Eye With Microcornea/Microphthalmia And Congenital Cataract Before And After Cataract Extraction[NCT04759560] | 133 participants (Anticipated) | Observational | 2020-07-25 | Recruiting | |||
[information is prepared from clinicaltrials.gov, extracted Sep-2024] |
10 reviews available for 2-propanol and Microphthalmia
Article | Year |
---|---|
Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review.
Topics: Abnormalities, Multiple; Anophthalmos; Chromosome Deletion; Chromosomes, Human, Pair 14; Coloboma; E | 2012 |
Retinal pigment epithelium: proliferation and differentiation during development and regeneration.
Topics: Adrenocorticotropic Hormone; Animals; Cell Cycle; Cell Differentiation; Cell Division; Chickens; DNA | 1983 |
[Ocular malformations: management].
Topics: Cornea; Eye; Eye Abnormalities; Humans; Iris; Lens, Crystalline; Microphthalmos | 1983 |
Congenital ocular disease in the foal.
Topics: Animals; Animals, Newborn; Cataract; Ciliary Body; Cornea; Ectropion; Entropion; Eye; Eye Abnormalit | 1984 |
Surgery of complicated infantile cataracts.
Topics: Adolescent; Cataract; Cataract Extraction; Child; Child, Preschool; Dermatitis, Atopic; Diabetes Mel | 1977 |
Congenital ophthalmic anomalies in cattle.
Topics: Albinism; Animals; Anophthalmos; Cataract; Cattle; Cattle Diseases; Coloboma; Exophthalmos; Eye Abno | 1976 |
Neonatal ophthalmology.
Topics: Animals; Animals, Newborn; Anophthalmos; Blepharitis; Cataract; Chorioretinitis; Coloboma; Conjuncti | 1985 |
Pediatric ophthalmology in small animal practice.
Topics: Animals; Cat Diseases; Cataract; Cats; Coloboma; Cornea; Dermoid Cyst; Dog Diseases; Dogs; Entropion | 1973 |
Hereditary retinal diseases in small animals.
Topics: Animals; Blindness; Cat Diseases; Cats; Choroid; Coloboma; Corneal Opacity; Dog Diseases; Dogs; Elec | 1973 |
[Ocular signs of trisomy 13. General review].
Topics: Anterior Chamber; Brain; Cataract; Child; Child, Preschool; Choroid; Chromosome Aberrations; Chromos | 1971 |
84 other studies available for 2-propanol and Microphthalmia
Article | Year |
---|---|
Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.
Topics: Cataract; Chromosome Deletion; Eye Abnormalities; Humans; Iris; Male; Microphthalmos; Persistent Hyp | 2021 |
Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.
Topics: China; Coloboma; Eye Abnormalities; Humans; Infant; Iris; Male; Membrane Proteins; Microphthalmos; N | 2022 |
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia.
Topics: Aniridia; Cataract; Eye Abnormalities; Eye Proteins; Homeodomain Proteins; Humans; Iris; Microphthal | 2022 |
Anterior-Segment Ocular Findings and Microphthalmia in Congenital Zika Syndrome.
Topics: Anterior Eye Segment; Cataract; Coloboma; DNA, Viral; Eye Infections, Viral; Female; Humans; Infant; | 2017 |
Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.
Topics: Adult; Cataract; Codon, Nonsense; Coloboma; Consanguinity; Cornea; DNA Mutational Analysis; Ear; Exo | 2018 |
Implantation of a double iris-claw intraocular lens in an aphakic nanophthalmic eye.
Topics: Aphakia, Postcataract; Female; Follow-Up Studies; Humans; Iris; Lens Implantation, Intraocular; Lens | 2017 |
Partial Rescue of Ocular Pigment Cells and Structure by Inducible Ectopic Expression of Mitf-M in MITF-Deficient Mice.
Topics: Animals; Blotting, Western; Choroid; Ectopic Gene Expression; Embryonic Development; Female; Gene Ex | 2018 |
Ocular phenotypic consequences of a single copy deletion of the
Topics: Adaptor Proteins, Signal Transducing; Animals; Cataract; Cell Cycle Proteins; Corneal Stroma; Descem | 2019 |
Anterior Segment Features in Nanophthalmos With Secondary Chronic Angle Closure Glaucoma: An Ultrasound Biomicroscopy Study.
Topics: Adult; Aged; Anterior Eye Segment; Axial Length, Eye; Case-Control Studies; Ciliary Body; Female; Gl | 2019 |
Glaucoma surgical problem: August consultation #1.
Topics: Adult; Anterior Eye Segment; Axial Length, Eye; Cataract Extraction; Chronic Disease; Glaucoma, Angl | 2013 |
Ten-year follow-up of familial nanophthalmos in three siblings.
Topics: Female; Follow-Up Studies; Glaucoma, Angle-Closure; Humans; Intraocular Pressure; Iris; Laser Therap | 2013 |
Systemic abnormalities in children with congenital optic disc excavations.
Topics: Cataract; Child; Child, Preschool; Coloboma; Corneal Opacity; Eye Abnormalities; Female; Humans; Inf | 2015 |
A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings.
Topics: Adult; Aicardi Syndrome; Aniridia; Child, Preschool; Coloboma; Electroretinography; Female; Humans; | 2016 |
Co-operative roles for E-cadherin and N-cadherin during lens vesicle separation and lens epithelial cell survival.
Topics: Animals; Biomarkers; Cadherins; Cdh1 Proteins; Cell Cycle Proteins; Cell Differentiation; Cell Survi | 2009 |
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
Topics: Adolescent; Adult; Cataract; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 2 | 2009 |
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.
Topics: Abnormalities, Multiple; Adult; Aniridia; Child, Preschool; Codon, Nonsense; Coloboma; Cornea; Exons | 2012 |
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.
Topics: Adult; Branchio-Oto-Renal Syndrome; Cataract; Coloboma; DNA Mutational Analysis; Exons; Female; Geno | 2012 |
Ocular anomalies in an infant with Klinefelter Syndrome.
Topics: Cataract; Cataract Extraction; Eye Abnormalities; Humans; Infant; Iris; Klinefelter Syndrome; Male; | 2012 |
Nanophthalmos: quantitative analysis of anterior chamber angle configuration before and after cataract surgery.
Topics: Adult; Aged; Anterior Chamber; Axial Length, Eye; Ciliary Body; Female; Humans; Intraocular Pressure | 2012 |
Iridoschisis associated with nanophthalmos and bullous keratopathy.
Topics: Aged; Cornea; Corneal Diseases; Glaucoma, Angle-Closure; Gonioscopy; Humans; Intraocular Pressure; I | 2013 |
[A case of retinal detachment on congenital microphthalmos].
Topics: Eye; Humans; Iris; Microphthalmos; Retinal Detachment | 1963 |
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
Topics: Adolescent; Cataract; Cataract Extraction; Child; Child, Preschool; Cornea; Craniofacial Abnormaliti | 2004 |
The management of secondary glaucoma in nanophthalmic patients.
Topics: Adolescent; Adult; Female; Filtering Surgery; Glaucoma; Humans; Intraocular Pressure; Iridectomy; Ir | 2002 |
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
Topics: Cataract; Coloboma; Crystallins; Female; Genes, Dominant; Genetic Linkage; Humans; Iris; Male; Micro | 2007 |
The requirement of pax6 for postnatal eye development: evidence from experimental mouse chimeras.
Topics: Animals; Chimera; Epithelium, Corneal; Eye; Eye Proteins; Female; Gene Expression Regulation, Develo | 2007 |
Perinatal ablation of the mouse lens causes multiple anterior chamber defects.
Topics: Animals; Animals, Newborn; Anterior Chamber; Aphakia; Cell Differentiation; Diphtheria Toxin; Endoth | 2007 |
Strabismus in congenital rubella. Management in the presence of brain damage.
Topics: Birth Weight; Brain Damage, Chronic; Cataract; Corneal Opacity; Female; Growth; Humans; Infant; Infa | 1967 |
Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex.
Topics: Abnormalities, Multiple; Choroid; Chromosome Inversion; Chromosomes, Human, 6-12 and X; Ciliary Body | 1980 |
Uveal coloboma associated with amniotic band syndrome.
Topics: Amniotic Band Syndrome; Coloboma; Female; Humans; Infant; Infant, Newborn; Iris; Microphthalmos; Uve | 1983 |
Nanophthalmos: a perspective on identification and therapy.
Topics: Adult; Aged; Cataract Extraction; Eye; Female; Glaucoma; Humans; Intraocular Pressure; Iris; Laser T | 1982 |
Colobomatous microphthalmos with diaphragmatic eventration (a case report).
Topics: Abnormalities, Multiple; Choroid; Coloboma; Diaphragmatic Eventration; Humans; Infant; Iris; Male; M | 1981 |
Inheritance of microphthalmia with coloboma in the Australian shepherd dog.
Topics: Animals; Coloboma; Dog Diseases; Dogs; Female; Hair Color; Iris; Male; Microphthalmos | 1981 |
Blepharophimosis syndrome: association with colobomatous microphthalmos.
Topics: Child, Preschool; Choroid; Coloboma; Eyelid Diseases; Humans; Iris; Male; Microphthalmos; Optic Disk | 1995 |
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.
Topics: Abnormalities, Multiple; Adult; Dental Enamel Hypoplasia; Face; Female; Humans; Infant; Infant, Newb | 1993 |
Bilateral optic disc colobomas and microphthalmos in a thoroughbred horse.
Topics: Animals; Coloboma; Cornea; Horse Diseases; Horses; Iris; Lens, Crystalline; Male; Microphthalmos; Re | 1993 |
Posterior segment neovascularization associated with optic nerve aplasia.
Topics: Coloboma; Electroretinography; Female; Humans; Infant; Iris; Male; Microphthalmos; Optic Disk; Optic | 1996 |
Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 13; | 1996 |
Optic disc in fundus coloboma.
Topics: Adolescent; Adult; Child; Choroid; Coloboma; Female; Fundus Oculi; Humans; Iris; Male; Microphthalmo | 1996 |
Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy.
Topics: Anophthalmos; Cornea; Epidemiologic Factors; Eye Abnormalities; Female; Glaucoma; Humans; Infant, Ne | 1996 |
Focal dermal hypoplasia (Goltz's syndrome).
Topics: Abnormalities, Multiple; Adolescent; Brain; Choroid; Coloboma; Cornea; Eye Abnormalities; Female; Fo | 1997 |
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 |
Exudative retinal detachment in nanophthalmos.
Topics: Acute Disease; Exudates and Transudates; Fluorescein Angiography; Glaucoma, Angle-Closure; Humans; I | 1998 |
Partial rescue of the ocular retardation phenotype by genetic modifiers.
Topics: Animals; Cell Differentiation; Cell Division; Ciliary Body; Crosses, Genetic; Electroretinography; E | 2000 |
Five cases of microphthalmia with other ocular malformations.
Topics: Abnormalities, Multiple; Cataract; Child, Preschool; Choroid; Coloboma; Corneal Opacity; Eye Abnorma | 2001 |
Aniridia.
Topics: Aniridia; Child; Corneal Edema; Genetic Counseling; Glaucoma, Angle-Closure; Humans; Intraocular Pre | 2002 |
Oculodentodigital dysplasia. Four new reports and a literature review.
Topics: Adolescent; Adult; Bone Diseases, Developmental; Child; Child, Preschool; Cornea; Dental Enamel Hypo | 1979 |
Unilateral glaucoma.
Topics: Angiomatosis; Anterior Chamber; Eye Diseases; Eye Injuries; Eye Neoplasms; Functional Laterality; Gl | 1977 |
[Double optic papilla in eye coloboma (author's transl)].
Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; Eye Neoplasms; Female; Humans; Iris; Leukoplaki | 1978 |
Solitary iris nevus associated with peripheral anterior synechiae and iris endothelialization.
Topics: Adult; Atrophy; Endothelium; Eye Neoplasms; Female; Humans; Iris; Male; Microphthalmos; Middle Aged; | 1977 |
The use of contact B mode ultrasound in pediatric ophthalmology.
Topics: Adult; Cataract; Child, Preschool; Coloboma; Corneal Opacity; Eye Diseases; Humans; Infant; Infant, | 1976 |
The management of glaucoma in nanophthalmos.
Topics: Adult; Choroid; Eye Diseases; Female; Glaucoma; Hemorrhage; Humans; Intraocular Pressure; Iris; Lens | 1975 |
Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.
Topics: Abnormalities, Multiple; Brain Neoplasms; Choroid; Coloboma; Eye Neoplasms; Humans; Infant; Iris; Ma | 1992 |
New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders.
Topics: Abnormalities, Multiple; Anophthalmos; Anus, Imperforate; Coloboma; Congenital Hypothyroidism; Growt | 1991 |
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 |
Laser and unsutured sclerotomy in nanophthalmos.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Cataract Extraction; Child; Child, Preschool; Female; Gl | 1990 |
Ring stromal opacity in lens-corneal adhesion.
Topics: Cornea; Corneal Diseases; Corneal Opacity; Corneal Stroma; Corneal Transplantation; Edema; Female; H | 1988 |
Nanophthalmic eyes and neodymium-YAG laser iridectomies.
Topics: Argon; Humans; Iris; Laser Therapy; Microphthalmos; Neodymium; Postoperative Complications; Retinal | 1987 |
Corneal involvement in autosomal dominant coloboma/microphthalmos.
Topics: Adult; Amblyopia; Chromosome Aberrations; Chromosome Disorders; Coloboma; Cornea; Female; Genes, Dom | 1986 |
Ultrasonographic visualization of the fetal eye.
Topics: Eye Abnormalities; Female; Humans; Iris; Microcephaly; Microphthalmos; Pregnancy; Prenatal Diagnosis | 1985 |
A new allele of microphthalmia induced in the mouse: microphthalmia--defective iris (midi).
Topics: Alleles; Animals; Bone Resorption; Crosses, Genetic; Ethylnitrosourea; Female; Iris; Male; Mice; Mic | 1985 |
Ocular manifestations of Conradi disease.
Topics: Cataract; Chondrodysplasia Punctata; Eye Abnormalities; Eye Diseases; Eye Manifestations; Eyelids; H | 1974 |
[Malformations of the eye and associated structures, and their treatment].
Topics: Albinism; Blepharoptosis; Cataract; Coloboma; Craniofacial Dysostosis; Eye Abnormalities; Eye Diseas | 1974 |
Persistent hyperplastic primary vitreous. Cases in Denmark 1942-1966. A mainly histopathological study.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Ciliary Body; Denmark; Eye; Eye | 1968 |
[Genetic counseling in eye diseases (author's transl)].
Topics: Cataract; Coloboma; Eye Diseases; Eye Neoplasms; Family Planning Services; Female; Genetic Counselin | 1973 |
Ocular manifestations of the Meckel syndrome.
Topics: Abnormalities, Multiple; Anophthalmos; Cataract; Cornea; Craniofacial Dysostosis; Diseases in Twins; | 1972 |
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 |
Strabismus in the rubella syndrome.
Topics: Abnormalities, Multiple; Brain Damage, Chronic; Cataract; Cataract Extraction; Child; Child, Prescho | 1972 |
Systemic and ocular manifestations of the rubella syndrome.
Topics: Abnormalities, Multiple; Adult; Cataract; Child; Child, Preschool; Eye Diseases; Eye Manifestations; | 1972 |
Clinical characteristics of microphthalmia with colobomas of the Australian Shepherd Dog.
Topics: Abnormalities, Multiple; Animals; Cataract; Choroid; Coloboma; Cornea; Dog Diseases; Dogs; Fundus Oc | 1973 |
Schmid-Fraccaro syndrome ("cat's eye" syndrome).
Topics: Abnormalities, Multiple; Adolescent; Anus, Imperforate; Cataract; Child; Choroid; Coloboma; Craniofa | 1973 |
Humeroradial synostosis. A case report.
Topics: Abnormalities, Multiple; Choroid; Chromosomes; Coloboma; Dermatoglyphics; Female; Humans; Humerus; I | 1973 |
Congenital corneal leukomas. 3. Histopathologic findings in 13 eyes with noncentral defect in Descemet's membrane.
Topics: Adolescent; Adult; Aged; Anterior Chamber; Autopsy; Child; Congenital Abnormalities; Cornea; Corneal | 1974 |
Ocular manifestations of congenital rubella syndrome. Recovery of virus from affected infants.
Topics: Cataract; Eye Abnormalities; Female; Humans; In Vitro Techniques; Infant, Newborn; Infant, Newborn, | 1966 |
[A rare dysplasia: the oculo-dento-digital syndrome].
Topics: Cerebral Ventriculography; Child; Dental Enamel Hypoplasia; Electroencephalography; Epilepsy; Eye Ab | 1965 |
Unilateral microcornea and enophthalmos with bilateral anterior and posterior anomalies.
Topics: Child; Choroid; Coloboma; Cornea; Eye Abnormalities; Female; Humans; Iris; Microphthalmos; Myopia; P | 1967 |
Intraocular cartilage in a microphthalmic eye of an otherwise healthy girl.
Topics: Abnormalities, Multiple; Adipose Tissue; Cartilage; Ciliary Body; Coloboma; Eye; Eye Abnormalities; | 1969 |
Colobomatous malformations of the ocular globe.
Topics: Anophthalmos; Choroid; Coloboma; Congenital Abnormalities; Eye Abnormalities; Genes, Dominant; Genes | 1968 |
Uveal colobomata and other anomalies in three generations of one family.
Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Child, Preschool; Cleft Lip; Cleft Palate; Coloboma; | 1971 |
Surgery of the rubella cataract.
Topics: Abnormalities, Multiple; Age Factors; Cataract; Cataract Extraction; Child, Preschool; Deafness; Fem | 1972 |
The anterior chamber cleavage syndrome.
Topics: Abnormalities, Multiple; Adolescent; Anterior Chamber; Cornea; Corneal Opacity; Eye Diseases; Female | 1969 |
Genetical aspects of severe visual impairment in childhood.
Topics: Anophthalmos; Cataract; Child; Child, Preschool; Chorioretinitis; Chromosome Aberrations; Chromosome | 1970 |
[Genetic consultations in ophthalmology].
Topics: Cataract; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Coloboma; Diagnosis | 1969 |
Spotting genes and internal pigmentation patterns in the mouse.
Topics: Albinism; Animals; Cell Differentiation; Choroid; Chromatophores; Cornea; Ear, Middle; Genes; Genoty | 1971 |
Ocular defects in congenital rubella.
Topics: Atrophy; Cataract; Chorioretinitis; Deafness; Diagnosis, Differential; Edema; Eye Diseases; Female; | 1969 |