Page last updated: 2024-10-29

2-propanol and Microphthalmia

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.

Research Excerpts

ExcerptRelevanceReference
"We report a patient with clinical anophthalmia, partial eyelid fusion and a hypoplastic socket on the right."2.48Ophthalmic 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."1.72Microcornea, 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."1.48Partial 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."1.43A 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."1.38Microphthalmia, 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."1.38Ocular 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%."1.35A 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."1.34New 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)."1.31The 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."1.31Five 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."1.30Focal dermal hypoplasia (Goltz's syndrome). ( Erden, I; Günalp, I; Gündüz, K, 1997)
"To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome."1.29Blepharophimosis syndrome: association with colobomatous microphthalmos. ( Lee, LR; Sullivan, TJ, 1995)
"High myopia was more common in the less severe anomalies."1.29Optic 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."1.28Retinoblastoma, 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."1.28New 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."1.26Inheritance 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)

Research

Studies (94)

TimeframeStudies, this research(%)All Research%
pre-199051 (54.26)18.7374
1990's14 (14.89)18.2507
2000's10 (10.64)29.6817
2010's16 (17.02)24.3611
2020's3 (3.19)2.80

Authors

AuthorsStudies
Yang, JF1
Roohipourmoallai, R1
Straughn, PE1
Sherwood, MB1
Agarwal-Sinha, S1
Zori, RT1
Iyer, SSR1
Zhou, Y1
Xu, K1
Gu, W1
Huang, Y1
Courdier, C1
Gemahling, A1
Guindolet, D1
Barjol, A1
Scaramouche, C1
Bouneau, L1
Calvas, P1
Martin, G1
Chassaing, N1
Plaisancié, J1
de Paula Freitas, B1
Zin, A1
Ko, A1
Maia, M1
Ventura, CV1
Belfort, R1
Abdel-Salam, GMH1
Abdel-Hamid, MS1
Mehrez, MI1
Kamal, AM1
Taher, MB1
Afifi, HH1
Sarioglu, FAO1
Tasci, YY1
Kurtul, BE1
Boluk, SO1
Michael, HT1
Graff-Cherry, C1
Chin, S1
Rauck, C1
Habtemichael, AD1
Bunda, P1
Smith, T1
Campos, MM1
Bharti, K1
Arnheiter, H1
Merlino, G1
Day, CP1
Kim, S1
Thomasy, SM1
Raghunathan, VK1
Teixeira, LBC1
Moshiri, A1
FitzGerald, P1
Murphy, CJ1
Guo, C1
Zhao, Z1
Zhang, D1
Liu, J1
Li, J1
Zhang, J1
Sun, N1
Chen, D1
Zhang, M1
Fan, Z1
Samuelson, TW1
Huang, J1
Ling, Y1
Lin, M1
Wu, Z1
Cheng, B1
Ge, J1
Beby, F2
Shirley, K1
O'Keefe, M1
McKee, S1
McLoone, E1
Pontoriero, GF1
Smith, AN1
Miller, LA1
Radice, GL1
West-Mays, JA1
Lang, RA1
Abouzeid, H1
Meire, FM1
Osman, I1
ElShakankiri, N1
Bolay, S1
Munier, FL1
Schorderet, DF1
Xiao, X1
Li, S2
Zhang, Q1
Dumitrescu, AV1
Milunsky, JM1
Longmuir, SQ1
Drack, AV1
Juhn, AT1
Nabi, NU1
Levin, AV1
Pearce, ZD1
Droste, PJ1
Aaberg, TM1
Hassan, AS1
Seki, M1
Fukuchi, T1
Ueda, J1
Suda, K1
Nakatsue, T1
Tanaka, Y1
Togano, T1
Yamamoto, S1
Hara, H1
Abe, H1
Crosby, NJ1
McDonnell, P1
Shah, P1
FUJITSU, M1
Müllner-Eidenböck, A1
Moser, E1
Klebermass, N1
Amon, M1
Walter, MC1
Lochmüller, H1
Gooding, R1
Kalaydjieva, L1
Huang, S1
Yu, M1
Qiu, C1
Ye, T1
Commeaux, C1
Bozon, M1
Denis, P1
Edery, P1
Morlé, L1
Goldowitz, D1
Swanson, DJ1
Zhang, Y1
Overbeek, PA1
Govindarajan, V1
O'Neill, JF2
Stroeva, OG1
Mitashov, VI1
Rousselie, F1
Munroe, GA1
Barnett, KC2
Lillquist, K1
Warburg, M2
Andersen, SR1
Hägerstrand, I1
BenEzra, D1
Frucht, Y1
Singh, OS2
Simmons, RJ2
Brockhurst, RJ1
Trempe, CL1
Radhakrishnan, N1
Gelatt, KN4
Powell, NG1
Huston, K1
Lee, LR1
Sullivan, TJ1
Schrander-Stumpel, CT1
De Groot-Wijnands, JB1
De Die-Smulders, C1
Fryns, JP1
Williams, DL1
Lee, BL1
Bateman, JB1
Schwartz, SD1
Fledelius, HC1
Gopal, L1
Badrinath, SS1
Kumar, KS1
Doshi, G1
Biswas, N1
Clementi, M1
Tenconi, R1
Bianchi, F1
Botto, L1
Calabro, A1
Calzolari, E1
Cianciulli, D1
Mammi, I1
Mastroiacovo, P1
Meli, P1
Spagnolo, A1
Turolla, L1
Volpato, S1
Gündüz, K1
Günalp, I1
Erden, I1
Can, B1
Krohn, J1
Seland, JH1
Bone-Larson, C1
Basu, S1
Radel, JD1
Liang, M1
Perozek, T1
Kapousta-Bruneau, N1
Green, DG1
Burmeister, M1
Hankin, MH1
Lee, JS1
Lee, JE1
Shin, YG1
Choi, HY1
Oum, BS1
Kim, HJ1
Khaw, PT1
Hiles, DA1
Biglan, AW1
Sheridan, SJ1
Judisch, GF1
Martin-Casals, A1
Hanson, JW1
Olin, WH1
Kazam, ES1
Junge, J1
Jakobiec, FA1
Yanoff, M2
Mottow, L1
Anker, P1
Jones, IS1
Mallek, DR1
Oliver, M1
Calhoun, FP1
Mauger, TF1
Makley, TA1
Davidorf, FH1
Rogers, GL1
Bierich, JR1
Christie, M1
Heinrich, JJ1
Martinez, AS1
Tommerup, N1
Vestermark, S1
Parving, A1
Weismann, K1
Russell, B1
Thomsen, HK1
Jin, JC1
Anderson, DR1
Varley, GA1
Beauchamp, GR1
Meisler, DM1
Belcher, CD1
Pearce, WG1
Latimer, CA1
Wyman, M1
de Elejalde, MM1
Elejalde, BR1
West, JD1
Fisher, G1
Loutit, JF1
Marshall, MJ1
Nisbet, NW1
Perry, VH1
Massey, JY1
Roy, FH2
Hervouët, F1
Jensen, OA2
Burow, B1
Theile, U1
Aguirre, G1
MacRae, DW1
Howard, RO1
Albert, DM1
Hsia, YE1
Holmark, J1
Boniuk, V1
McGill, LD1
Petersen, RA1
Say, B1
Balci, S1
Atasu, M1
Townsend, WM1
Font, RL2
Zimmerman, LE1
Hiatt, RL1
Korones, SB1
Roane, J1
Sörgel, HJ1
Heidrich, R1
Batra, DV1
Paul, SD1
Francois, J1
Collum, LM1
Cordier, J1
Reny, A1
Kahn, N1
Weiss, DI1
Ziring, PR1
Cooper, LZ1
Mullaney, J1
Fraser, GR1
Klein, D1
Deol, MS1
Hertzberg, R1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Biometric Characteristics Of The Eye With Microcornea/Microphthalmia And Congenital Cataract Before And After Cataract Extraction[NCT04759560]133 participants (Anticipated)Observational2020-07-25Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

10 reviews available for 2-propanol and Microphthalmia

ArticleYear
Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review.
    Ophthalmic genetics, 2012, Volume: 33, Issue:3

    Topics: Abnormalities, Multiple; Anophthalmos; Chromosome Deletion; Chromosomes, Human, Pair 14; Coloboma; E

2012
Retinal pigment epithelium: proliferation and differentiation during development and regeneration.
    International review of cytology, 1983, Volume: 83

    Topics: Adrenocorticotropic Hormone; Animals; Cell Cycle; Cell Differentiation; Cell Division; Chickens; DNA

1983
[Ocular malformations: management].
    Annales de pediatrie, 1983, Volume: 30, Issue:7

    Topics: Cornea; Eye; Eye Abnormalities; Humans; Iris; Lens, Crystalline; Microphthalmos

1983
Congenital ocular disease in the foal.
    The Veterinary clinics of North America. Large animal practice, 1984, Volume: 6, Issue:3

    Topics: Animals; Animals, Newborn; Cataract; Ciliary Body; Cornea; Ectropion; Entropion; Eye; Eye Abnormalit

1984
Surgery of complicated infantile cataracts.
    International ophthalmology clinics, 1977,Winter, Volume: 17, Issue:4

    Topics: Adolescent; Cataract; Cataract Extraction; Child; Child, Preschool; Dermatitis, Atopic; Diabetes Mel

1977
Congenital ophthalmic anomalies in cattle.
    Modern veterinary practice, 1976, Volume: 57, Issue:2

    Topics: Albinism; Animals; Anophthalmos; Cataract; Cattle; Cattle Diseases; Coloboma; Exophthalmos; Eye Abno

1976
Neonatal ophthalmology.
    The Veterinary clinics of North America. Equine practice, 1985, Volume: 1, Issue:1

    Topics: Animals; Animals, Newborn; Anophthalmos; Blepharitis; Cataract; Chorioretinitis; Coloboma; Conjuncti

1985
Pediatric ophthalmology in small animal practice.
    The Veterinary clinics of North America, 1973, Volume: 3, Issue:3

    Topics: Animals; Cat Diseases; Cataract; Cats; Coloboma; Cornea; Dermoid Cyst; Dog Diseases; Dogs; Entropion

1973
Hereditary retinal diseases in small animals.
    The Veterinary clinics of North America, 1973, Volume: 3, Issue:3

    Topics: Animals; Blindness; Cat Diseases; Cats; Choroid; Coloboma; Corneal Opacity; Dog Diseases; Dogs; Elec

1973
[Ocular signs of trisomy 13. General review].
    Advances in ophthalmology = Fortschritte der Augenheilkunde = Progres en ophtalmologie, 1971, Volume: 24, Issue:0

    Topics: Anterior Chamber; Brain; Cataract; Child; Child, Preschool; Choroid; Chromosome Aberrations; Chromos

1971

Other Studies

84 other studies available for 2-propanol and Microphthalmia

ArticleYear
Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.
    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2021, Volume: 25, Issue:5

    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.
    Molecular genetics & genomic medicine, 2022, Volume: 10, Issue:6

    Topics: China; Coloboma; Eye Abnormalities; Humans; Infant; Iris; Male; Membrane Proteins; Microphthalmos; N

2022
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia.
    European journal of medical genetics, 2022, Volume: 65, Issue:10

    Topics: Aniridia; Cataract; Eye Abnormalities; Eye Proteins; Homeodomain Proteins; Humans; Iris; Microphthal

2022
Anterior-Segment Ocular Findings and Microphthalmia in Congenital Zika Syndrome.
    Ophthalmology, 2017, Volume: 124, Issue:12

    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.
    Ophthalmic genetics, 2018, Volume: 39, Issue:2

    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.
    Indian journal of ophthalmology, 2017, Volume: 65, Issue:12

    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.
    Investigative ophthalmology & visual science, 2018, 12-03, Volume: 59, Issue:15

    Topics: Animals; Blotting, Western; Choroid; Ectopic Gene Expression; Embryonic Development; Female; Gene Ex

2018
Ocular phenotypic consequences of a single copy deletion of the
    Molecular vision, 2019, Volume: 25

    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.
    Investigative ophthalmology & visual science, 2019, 05-01, Volume: 60, Issue:6

    Topics: Adult; Aged; Anterior Eye Segment; Axial Length, Eye; Case-Control Studies; Ciliary Body; Female; Gl

2019
Glaucoma surgical problem: August consultation #1.
    Journal of cataract and refractive surgery, 2013, Volume: 39, Issue:8

    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.
    Eye science, 2013, Volume: 28, Issue:3

    Topics: Female; Follow-Up Studies; Glaucoma, Angle-Closure; Humans; Intraocular Pressure; Iris; Laser Therap

2013
Systemic abnormalities in children with congenital optic disc excavations.
    Current eye research, 2015, Volume: 40, Issue:4

    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.
    Eye (London, England), 2016, Volume: 30, Issue:7

    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.
    Developmental biology, 2009, Feb-15, Volume: 326, Issue:2

    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.
    Ophthalmology, 2009, Volume: 116, Issue:1

    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.
    Ophthalmic genetics, 2012, Volume: 33, Issue:2

    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.
    Ophthalmic genetics, 2012, Volume: 33, Issue:2

    Topics: Adult; Branchio-Oto-Renal Syndrome; Cataract; Coloboma; DNA Mutational Analysis; Exons; Female; Geno

2012
Ocular anomalies in an infant with Klinefelter Syndrome.
    Ophthalmic genetics, 2012, Volume: 33, Issue:4

    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.
    The British journal of ophthalmology, 2012, Volume: 96, Issue:8

    Topics: Adult; Aged; Anterior Chamber; Axial Length, Eye; Ciliary Body; Female; Humans; Intraocular Pressure

2012
Iridoschisis associated with nanophthalmos and bullous keratopathy.
    International ophthalmology, 2013, Volume: 33, Issue:1

    Topics: Aged; Cornea; Corneal Diseases; Glaucoma, Angle-Closure; Gonioscopy; Humans; Intraocular Pressure; I

2013
[A case of retinal detachment on congenital microphthalmos].
    Nihon ganka kiyo, 1963, Volume: 14

    Topics: Eye; Humans; Iris; Microphthalmos; Retinal Detachment

1963
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
    Ophthalmology, 2004, Volume: 111, Issue:7

    Topics: Adolescent; Cataract; Cataract Extraction; Child; Child, Preschool; Cornea; Craniofacial Abnormaliti

2004
The management of secondary glaucoma in nanophthalmic patients.
    Yan ke xue bao = Eye science, 2002, Volume: 18, Issue:3

    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.
    Archives of ophthalmology (Chicago, Ill. : 1960), 2007, Volume: 125, Issue:2

    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.
    Investigative ophthalmology & visual science, 2007, Volume: 48, Issue:7

    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.
    Molecular vision, 2007, Dec-18, Volume: 13

    Topics: Animals; Animals, Newborn; Anterior Chamber; Aphakia; Cell Differentiation; Diphtheria Toxin; Endoth

2007
Strabismus in congenital rubella. Management in the presence of brain damage.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1967, Volume: 77, Issue:4

    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.
    Acta paediatrica Scandinavica, 1980, Volume: 69, Issue:3

    Topics: Abnormalities, Multiple; Choroid; Chromosome Inversion; Chromosomes, Human, 6-12 and X; Ciliary Body

1980
Uveal coloboma associated with amniotic band syndrome.
    Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 1983, Volume: 18, Issue:3

    Topics: Amniotic Band Syndrome; Coloboma; Female; Humans; Infant; Infant, Newborn; Iris; Microphthalmos; Uve

1983
Nanophthalmos: a perspective on identification and therapy.
    Ophthalmology, 1982, Volume: 89, Issue:9

    Topics: Adult; Aged; Cataract Extraction; Eye; Female; Glaucoma; Humans; Intraocular Pressure; Iris; Laser T

1982
Colobomatous microphthalmos with diaphragmatic eventration (a case report).
    Indian journal of ophthalmology, 1981, Volume: 28, Issue:4

    Topics: Abnormalities, Multiple; Choroid; Coloboma; Diaphragmatic Eventration; Humans; Infant; Iris; Male; M

1981
Inheritance of microphthalmia with coloboma in the Australian shepherd dog.
    American journal of veterinary research, 1981, Volume: 42, Issue:10

    Topics: Animals; Coloboma; Dog Diseases; Dogs; Female; Hair Color; Iris; Male; Microphthalmos

1981
Blepharophimosis syndrome: association with colobomatous microphthalmos.
    Australian and New Zealand journal of ophthalmology, 1995, Volume: 23, Issue:2

    Topics: Child, Preschool; Choroid; Coloboma; Eyelid Diseases; Humans; Iris; Male; Microphthalmos; Optic Disk

1995
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.
    Genetic counseling (Geneva, Switzerland), 1993, Volume: 4, Issue:4

    Topics: Abnormalities, Multiple; Adult; Dental Enamel Hypoplasia; Face; Female; Humans; Infant; Infant, Newb

1993
Bilateral optic disc colobomas and microphthalmos in a thoroughbred horse.
    The Veterinary record, 1993, Jan-30, Volume: 132, Issue:5

    Topics: Animals; Coloboma; Cornea; Horse Diseases; Horses; Iris; Lens, Crystalline; Male; Microphthalmos; Re

1993
Posterior segment neovascularization associated with optic nerve aplasia.
    American journal of ophthalmology, 1996, Volume: 122, Issue:1

    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.
    Acta ophthalmologica Scandinavica. Supplement, 1996, Issue:219

    Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 13;

1996
Optic disc in fundus coloboma.
    Ophthalmology, 1996, Volume: 103, Issue:12

    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.
    Birth defects original article series, 1996, Volume: 30, Issue:1

    Topics: Anophthalmos; Cornea; Epidemiologic Factors; Eye Abnormalities; Female; Glaucoma; Humans; Infant, Ne

1996
Focal dermal hypoplasia (Goltz's syndrome).
    Ophthalmic genetics, 1997, Volume: 18, Issue:3

    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.
    Clinical genetics, 1997, Volume: 52, Issue:4

    Topics: Abnormalities, Multiple; Coloboma; Fetal Growth Retardation; Humans; Infant, Newborn; Iris; Microcep

1997
Exudative retinal detachment in nanophthalmos.
    Acta ophthalmologica Scandinavica, 1998, Volume: 76, Issue:4

    Topics: Acute Disease; Exudates and Transudates; Fluorescein Angiography; Glaucoma, Angle-Closure; Humans; I

1998
Partial rescue of the ocular retardation phenotype by genetic modifiers.
    Journal of neurobiology, 2000, Feb-05, Volume: 42, Issue:2

    Topics: Animals; Cell Differentiation; Cell Division; Ciliary Body; Crosses, Genetic; Electroretinography; E

2000
Five cases of microphthalmia with other ocular malformations.
    Korean journal of ophthalmology : KJO, 2001, Volume: 15, Issue:1

    Topics: Abnormalities, Multiple; Cataract; Child, Preschool; Choroid; Coloboma; Corneal Opacity; Eye Abnorma

2001
Aniridia.
    Journal of glaucoma, 2002, Volume: 11, Issue:2

    Topics: Aniridia; Child; Corneal Edema; Genetic Counseling; Glaucoma, Angle-Closure; Humans; Intraocular Pre

2002
Oculodentodigital dysplasia. Four new reports and a literature review.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1979, Volume: 97, Issue:5

    Topics: Adolescent; Adult; Bone Diseases, Developmental; Child; Child, Preschool; Cornea; Dental Enamel Hypo

1979
Unilateral glaucoma.
    Ophthalmic seminars, 1977, Volume: 2, Issue:4

    Topics: Angiomatosis; Anterior Chamber; Eye Diseases; Eye Injuries; Eye Neoplasms; Functional Laterality; Gl

1977
[Double optic papilla in eye coloboma (author's transl)].
    Klinische Monatsblatter fur Augenheilkunde, 1978, Volume: 172, Issue:5

    Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; Eye Neoplasms; Female; Humans; Iris; Leukoplaki

1978
Solitary iris nevus associated with peripheral anterior synechiae and iris endothelialization.
    American journal of ophthalmology, 1977, Volume: 83, Issue:6

    Topics: Adult; Atrophy; Endothelium; Eye Neoplasms; Female; Humans; Iris; Male; Microphthalmos; Middle Aged;

1977
The use of contact B mode ultrasound in pediatric ophthalmology.
    Journal of pediatric ophthalmology, 1976, Volume: 13, Issue:1

    Topics: Adult; Cataract; Child, Preschool; Coloboma; Corneal Opacity; Eye Diseases; Humans; Infant; Infant,

1976
The management of glaucoma in nanophthalmos.
    Transactions of the American Ophthalmological Society, 1975, Volume: 73

    Topics: Adult; Choroid; Eye Diseases; Female; Glaucoma; Hemorrhage; Humans; Intraocular Pressure; Iris; Lens

1975
Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.
    Annals of ophthalmology, 1992, Volume: 24, Issue:8

    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.
    European journal of pediatrics, 1991, Volume: 150, Issue:4

    Topics: Abnormalities, Multiple; Anophthalmos; Anus, Imperforate; Coloboma; Congenital Hypothyroidism; Growt

1991
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.
    Ophthalmic paediatrics and genetics, 1990, Volume: 11, Issue:3

    Topics: Abnormalities, Multiple; Blindness; Child; Coloboma; Cytogenetics; Deafness; Female; Humans; Iris; M

1990
Laser and unsutured sclerotomy in nanophthalmos.
    American journal of ophthalmology, 1990, May-15, Volume: 109, Issue:5

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Cataract Extraction; Child; Child, Preschool; Female; Gl

1990
Ring stromal opacity in lens-corneal adhesion.
    Cornea, 1988, Volume: 7, Issue:1

    Topics: Cornea; Corneal Diseases; Corneal Opacity; Corneal Stroma; Corneal Transplantation; Edema; Female; H

1988
Nanophthalmic eyes and neodymium-YAG laser iridectomies.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1987, Volume: 105, Issue:4

    Topics: Argon; Humans; Iris; Laser Therapy; Microphthalmos; Neodymium; Postoperative Complications; Retinal

1987
Corneal involvement in autosomal dominant coloboma/microphthalmos.
    Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 1986, Volume: 21, Issue:7

    Topics: Adult; Amblyopia; Chromosome Aberrations; Chromosome Disorders; Coloboma; Cornea; Female; Genes, Dom

1986
Ultrasonographic visualization of the fetal eye.
    Journal of craniofacial genetics and developmental biology, 1985, Volume: 5, Issue:4

    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).
    Genetical research, 1985, Volume: 46, Issue:3

    Topics: Alleles; Animals; Bone Resorption; Crosses, Genetic; Ethylnitrosourea; Female; Iris; Male; Mice; Mic

1985
Ocular manifestations of Conradi disease.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1974, Volume: 92, Issue:6

    Topics: Cataract; Chondrodysplasia Punctata; Eye Abnormalities; Eye Diseases; Eye Manifestations; Eyelids; H

1974
[Malformations of the eye and associated structures, and their treatment].
    Journal de genetique humaine, 1974, Volume: 22, Issue:4

    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.
    Acta ophthalmologica, 1968, Volume: 46, Issue:3

    Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Ciliary Body; Denmark; Eye; Eye

1968
[Genetic counseling in eye diseases (author's transl)].
    Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology, 1973, Nov-06, Volume: 188, Issue:4

    Topics: Cataract; Coloboma; Eye Diseases; Eye Neoplasms; Family Planning Services; Female; Genetic Counselin

1973
Ocular manifestations of the Meckel syndrome.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1972, Volume: 88, Issue:1

    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.
    Acta ophthalmologica, 1972, Volume: 50, Issue:6

    Topics: Abnormalities, Multiple; Anterior Chamber; Cornea; Corneal Opacity; Descemet Membrane; Eye Abnormali

1972
Strabismus in the rubella syndrome.
    International ophthalmology clinics, 1972,Summer, Volume: 12, Issue:2

    Topics: Abnormalities, Multiple; Brain Damage, Chronic; Cataract; Cataract Extraction; Child; Child, Prescho

1972
Systemic and ocular manifestations of the rubella syndrome.
    International ophthalmology clinics, 1972,Summer, Volume: 12, Issue:2

    Topics: Abnormalities, Multiple; Adult; Cataract; Child; Child, Preschool; Eye Diseases; Eye Manifestations;

1972
Clinical characteristics of microphthalmia with colobomas of the Australian Shepherd Dog.
    Journal of the American Veterinary Medical Association, 1973, Mar-01, Volume: 162, Issue:5

    Topics: Abnormalities, Multiple; Animals; Cataract; Choroid; Coloboma; Cornea; Dog Diseases; Dogs; Fundus Oc

1973
Schmid-Fraccaro syndrome ("cat's eye" syndrome).
    Archives of ophthalmology (Chicago, Ill. : 1960), 1973, Volume: 90, Issue:4

    Topics: Abnormalities, Multiple; Adolescent; Anus, Imperforate; Cataract; Child; Choroid; Coloboma; Craniofa

1973
Humeroradial synostosis. A case report.
    Humangenetik, 1973, Sep-20, Volume: 19, Issue:3

    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.
    American journal of ophthalmology, 1974, Volume: 77, Issue:3

    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.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1966, Volume: 75, Issue:5

    Topics: Cataract; Eye Abnormalities; Female; Humans; In Vitro Techniques; Infant, Newborn; Infant, Newborn,

1966
[A rare dysplasia: the oculo-dento-digital syndrome].
    Zeitschrift fur arztliche Fortbildung, 1965, May-01, Volume: 59, Issue:9

    Topics: Cerebral Ventriculography; Child; Dental Enamel Hypoplasia; Electroencephalography; Epilepsy; Eye Ab

1965
Unilateral microcornea and enophthalmos with bilateral anterior and posterior anomalies.
    The British journal of ophthalmology, 1967, Volume: 51, Issue:9

    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.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1969, Volume: 81, Issue:2

    Topics: Abnormalities, Multiple; Adipose Tissue; Cartilage; Ciliary Body; Coloboma; Eye; Eye Abnormalities;

1969
Colobomatous malformations of the ocular globe.
    International ophthalmology clinics, 1968,Winter, Volume: 8, Issue:4

    Topics: Anophthalmos; Choroid; Coloboma; Congenital Abnormalities; Eye Abnormalities; Genes, Dominant; Genes

1968
Uveal colobomata and other anomalies in three generations of one family.
    The British journal of ophthalmology, 1971, Volume: 55, Issue:7

    Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Child, Preschool; Cleft Lip; Cleft Palate; Coloboma;

1971
Surgery of the rubella cataract.
    American journal of ophthalmology, 1972, Volume: 73, Issue:3

    Topics: Abnormalities, Multiple; Age Factors; Cataract; Cataract Extraction; Child, Preschool; Deafness; Fem

1972
The anterior chamber cleavage syndrome.
    Transactions of the ophthalmological societies of the United Kingdom, 1969, Volume: 88

    Topics: Abnormalities, Multiple; Adolescent; Anterior Chamber; Cornea; Corneal Opacity; Eye Diseases; Female

1969
Genetical aspects of severe visual impairment in childhood.
    Journal of medical genetics, 1970, Volume: 7, Issue:3

    Topics: Anophthalmos; Cataract; Child; Child, Preschool; Chorioretinitis; Chromosome Aberrations; Chromosome

1970
[Genetic consultations in ophthalmology].
    Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde, 1969, Volume: 158, Issue:5

    Topics: Cataract; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Coloboma; Diagnosis

1969
Spotting genes and internal pigmentation patterns in the mouse.
    Journal of embryology and experimental morphology, 1971, Volume: 26, Issue:1

    Topics: Albinism; Animals; Cell Differentiation; Choroid; Chromatophores; Cornea; Ear, Middle; Genes; Genoty

1971
Ocular defects in congenital rubella.
    The Medical journal of Australia, 1969, Mar-15, Volume: 1, Issue:11

    Topics: Atrophy; Cataract; Chorioretinitis; Deafness; Diagnosis, Differential; Edema; Eye Diseases; Female;

1969