Bilateral Congenital Ectropion Uveae, Anterior Segment Dysgenesis and Aniridia With Microspherophakic Congenital Cataracts and Rubeosis Iridis

Abstract

Congenital ectropion uveae is a rare ocular manifestation of neural crest syndrome. It is a non progressive anomaly characterized by presence of iris pigment epithelium on anterior surface of iris from the pigment ruff.Congenital glaucoma is its common association^3-8. Classically it is unilateral with ipsilateral glaucoma. There is one case report of bilateral congenital ectropion uvea with bilateral glaucoma. Here we are documenting a case report with bilateral congenital ectropion uvea with bilateral congenital glaucoma, bilateral megalocornea, bilateral anterior segment dysgenesis, bilateral microspherophakic cataract, bilateral rubiosis iridis, bilateral non developed zonules and optically empty vitreous and bilateral nystagmus in a three months old full term baby. Anterior segment dysgenesis spans an anomaly ranging from posterior embryotoxon with iris strands adherent to it to hypoplastic iris and dyscoria. Severe iris hypoplasia manifests as aniridia which is an autosomal dominant bilateral condition with variable appearance of iris from a rudimentary stump to mild iris atrophy. Central corneal pannus, cataract, foveal hypoplasia, decreased vision and nystagmus can be an association of aniridia. Our case report is a conglomeration of all these independently reported ocular anomalies, never found coexistant and reported before. Throughout the literature review we did not find a single case report of such a stark bilateral anterior segment disfigurement and developmental disarray. It is a novel case report.