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Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects 

Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects
Chapter:
Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects
Author(s):

Brian P. Brooks

and Elias I. Traboulsi

DOI:
10.1093/med/9780195326147.003.0005
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date: 05 July 2022

This chapter will review the clinical characteristics, developmental mechanisms, and known genetic causes of anophthalmia, microphthalmia, and optic fissure closure defects (commonly referred to as “colobomas”). While these three conditions are often viewed separately, Warburg has pointed out that—at least in some cases—they may be manifestations of the same underlying genetic defect.1 Given recent advances in the molecular genetics of this class of ocular malformations, we have tried to move away from purely descriptive discussions towards a gene-specific classification. Because a mechanistic understanding of these conditions requires a working knowledge of ocular development, we will briefly review the relevant embryology here.

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