Ocular colobomata present diagnostic and therapeutic challenges in patients
of all ages, but especially in young children. The "typical" coloboma, cau
sed by defective closure of the fetal fissure, is located in the inferonasa
l quadrant, and it may affect any Dart of the globe traversed by the fissur
e from the iris to the optic nerve. Ocular colobomata are often associated
with microphthalmia, and they may be idiopathic or associated with various
syndromes. Types and severity of complications vary depending on the locati
on and size of the colobomata. This article reviews the pathogeneses, categ
orization, genetic bases, differential diagnoses and management of ocular c
oloboma. (Surv Ophthalmol 45: 175-194, 2000. (C) 2000 Elsevier Science Inc.
All rights reserved.).