PURPOSE To review the recent literature and describe the authors' experience with congenital upper eyelid coloboma. METHODS In this review, we will summarize the embryologic and etiopathogenetic bases of congenital upper eyelid coloboma, and study the published clinical reports. We will also attempt to briefly shed some light on the rarer syndromic curiosities associated with upper eyelid col...

PURPOSE We recently demonstrated that molecular therapy using aminoglycosides can overcome the underlying genetic defect in two zebrafish models of ocular coloboma and showed abnormal cell death to be a key feature associated with the optic fissure closure defects. In further studies to identify molecular therapies for this common congenital malformation, we now examine the effects of anti-apop...

Urkude J, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-221549 Description Case 1: A posterior segment B-scan ultrasonography in a patient with typical iris coloboma and total cataract, showed well-defined excavated area in the inferior part just below the optic disc (red arrow) with the absence of retinochoroidal layer, suggestive of fundal coloboma (yellow arrow) (figure 1A). Involvement of ...

Purpose: To report a rare case of bilateral circumscribed posterior keratoconus in microcornea associated with unilateral irido-fundal coloboma. Method: A case of bilateral circumscribed posterior keratoconus associated with unilateral irido-fundal coloboma presented to us with complaints of diminution of vision in both eyes since birth. The patient had undergone renal transplant for end stage ...

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...