Congenital iris ectropion associated with ocular albinism, foveal hypoplasia, and keratoconjunctivitis sicca

Abstract

c ongenital iris ectropion is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris at the pupillary border. Recent authors.have attributed congenital iris ectropion to a developmental arrest of neural crest structures caused by contact of the posterior iris pigment epithelium with a retained primordial endotheliumJ, 2 Anterior segment abnormalities associated with congenital iris ectropion include angle dysgenesis and a prominent Schwalbe's line) These anterior segment findings have been observed in association with abnormalities of chromosome 6, suggesting that genes on this chromosome affect ocular structures derived from the neural crest. 4 Normal shape of the pupil and function of the sphincter and dilator muscles are usually found in iris ectropion, except when it is associated with Rieger's anomaly or aniridia. Glaucoma usually develops within the first two decades of life. 3 Few hereditary cases have been reported. Most cases of congenital iris ectropion are unilateral and are associated with ipsilateral ptosis. 2 Congenital iris ectropion has also been associated with neurofibromatosis, facial hemihypertrophy, Prader-Willi syndrome, factor XI deficiency, and gingival hyperplasia, s, 6