Results 81 to 90 of about 12,123 (207)
European Journal of Human Genetics, 2011 Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, frequently called optic nerve ...
openaire +2 more sources
Defining the Sequence Elements and Candidate Genes for the Coloboma Mutation
PLoS ONE, 2013 The chicken coloboma mutation exhibits features similar to human congenital developmental malformations such as ocular coloboma, cleft-palate, dwarfism, and polydactyly.
Elizabeth A. Robb +2 more
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, 1999 The patient is a 35-year-old asymptomatic woman with a bridge coloboma, also known as double optic disc.
Anthony C. Arnold, MD
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Phenotype variability among UCD-Coloboma.003 mutant embryos.
, 2013 (A) Normal, non-carrier (Z+/Z+) UCD-Coloboma.003 chicken embryo. (B) Mild expression. UCD-Coloboma.003 mutant embryo (Zco/W) displaying mild truncation of the limbs, mild cleft-palate, mild dwarfism, mild exposed viscera, oligodactyly (loss of digit ...
Parker B. Antin (149114) +2 more
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, 2017 The article presents an interesting and fairly rare clinical case of congenital posterior segment anomaly of both eyes manifesting itself by coloboma of the optic nerve head in the right eye and choroidal coloboma in the left eye.
Aleksandr S. Kharakozov +5 more
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Retinitis pigmentosa with iris coloboma due to miR‐204 gene variant in a Chinese family
Molecular Genetics & Genomic MedicinePurpose To characterize the phenotype and genotype of a Chinese family with autosomal‐dominant retinitis pigmentosa (RP) accompanied by iris coloboma.
Zhang Lei +6 more
doaj +1 more source
Discussion on Coloboma of the Macula [PDF]
Proceedings of the Royal Society of Medicine, 1927 +18 more sources
Selection of surgical technique for retinal detachment with coloboma of the choroid
Indian Journal of Ophthalmology, 1994 Four eyes with rhegmatogenous retinal detachment and coloboma of the choroid were managed by conventional scleral buckling (one eye); scleral buckling combined with lensectomy, vitrectomy, and fluid-air exchange (two eyes); and vitrectomy, silicone oil ...
Jalali Subhadra, Das Taraprasad
doaj
Bilateral Aniridia Lenticular Coloboma and Snowflake Retinal Degeneration
, 2009 A 6-year-old boy presented with bilateral aniridia associated with lens coloboma and snowflake retinal degeneration. Ophthalmologic examination revealed bilateral corneal peripheral epithelial thickening and aniridia.
Selim Doganay +5 more
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Coloboma: Chave Ocular Para Patologia Sistémica
, 2016 Introdução: Um coloboma é uma anomalia do desenvolvimento que se caracteriza, na maioria dos casos, por um deficiente encerramento da fissura embrionária na 6ª semana da gestação.
Proença, R +6 more
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