Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: Understanding the spectrum

Abstract

Importance: Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities. Objective To document the ocular and systemic findings and inheritance patterns in patients with microphthalmia, anophthalmia, and coloboma disease to gain insight into the underlying developmental etiologies. Design, Setting, and Participants This retrospective consecutive case serieswas conducted at a tertiary referral center. Included in the study were 141 patients with microphthalmia, anophthalmia, and coloboma disease without a recognized syndromic etiology who attended theWestmead Children's Hospital, Sydney, from 1981-2012. EXPOSURE Cases were grouped on the basis of t..