title: Ocular colobomata.
abstract: Ocular colobomata present diagnostic and therapeutic challenges in patients of all ages, but especially in young children. The "typical" coloboma, caused by defective closure of the fetal fissure, is located in the inferonasal quadrant, and it may affect any part of the globe traversed by the fissure 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 location and size of the colobomata. This article reviews the pathogeneses, categorization, genetic bases, differential diagnoses and management of ocular coloboma.
authors.affiliation: Family Practice Departments of Schenectady Family Health Services and St. Clare's Hospital, Schenectady, NY, USA.
authors.forename: B C
authors.initials: BC
authors.lastname: Onwochei
authors.forename: J W
authors.initials: JW
authors.lastname: Simon
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
authors.forename: K C
authors.initials: KC
authors.lastname: Couture
authors.forename: E
authors.initials: E
authors.lastname: Mir
mesh_terms: D000015:Abnormalities, Multiple; D003103:Coloboma / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics; D011379:Prognosis; D014792:Visual Acuity