A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina. The Toxoplasma IgG antibody was negative. The diagnosis of bilateral macular coloboma with pigmented paravenous retinochoroidal atrophy was made and seemed to be a developmental abnormality in origin.

PURPOSE The paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia. The purpose of this study was to identify genetic defects as the underlying cause of familial ocular coloboma in a large Chinese family. METHODS After linkage analysis was carried out in this family, all exons of ...

PURPOSE To describe a case of congenital unilateral giant coloboma and its successful surgical repair with 33 years of follow-up. CASE REPORT A 6-year-old boy presented with a congenital unilateral giant coloboma of the right upper eyelid associated with madarosis of the eyebrows, microphthalmos, dystopia of the hair, and coloboma of the apex of the nose. The patient underwent surgical repair...

Retinal detachment in adults with posterior segment coloboma is thought to be rhegmatogenous. Vitrectomy techniques are therefore used therapeutically. There is indirect evidence that subretinal fluid in retinal detachment, associated with optic nerve cavitation, is cerebrospinal fluid (CSF). We report 2 pediatric cases, referred for the management of coloboma-related retinal detachment, that p...

The eye primordium arises as a lateral outgrowth of the forebrain, with a transient fissure on the inferior side of the optic cup providing an entry point for developing blood vessels. Incomplete closure of the inferior ocular fissure results in coloboma, a disease characterized by gaps in the inferior eye and recognized as a significant cause of pediatric blindness. Here, we identify eight pat...

Ocular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently associated with additional anomalies, including microphthalmia and cataracts. Although Hedgehog signaling is known to play a critical role in choroid fissure closure, genetic regulation of this pathway remains poorly understood. Here, we show t...

purpose : we describe our experience on safety and effectiveness of phacoemulsification in cataract and congenital iris coloboma and point out some specific surgical recommendations aimed to minimize its complications. methods : a prospective case series study was conducted on nineteen consecutive patients with cataract and congenital iris coloboma referred to the farabi eye hospital in tehran....

Uveal coloboma is a rare eye malformation caused by failure of the optic fissure to close during the fifth to seventh weeks of foetal life. The risk of retinal detachment increases with age in colobomatous eyes. Preventive measures such as early detection of the retinal break, prophylactic laser photocoagulation along the coloboma margin, confer a significant benefit in reducing this risk of re...