Chapter

Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects

Brian P. Brooks and Elias I. Traboulsi

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI: http://dx.doi.org/10.1093/med/9780195326147.003.0005

Series: Oxford Monographs on Medical Genetics

Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects

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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.

Chapter.  14777 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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