Show Summary Details
Page of

Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects 

Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects
Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects

Brian P. Brooks

and Elias I. Traboulsi

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2022. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

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.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.