Malformations of the Anterior Segment of the Eye

James E. H. Smith 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:

Series: Oxford Monographs on Medical Genetics

Malformations of the Anterior Segment of the Eye

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  • Clinical Genetics
  • Ophthalmology


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This chapter covers the clinical aspects of congenital malformations of the cornea, anterior chamber angle and some of those that involve the iris and lens. This grouping is arbitrary. It reflects the anatomic proximity of the involved structures rather than common pathogenetic or embryopathic mechanisms among the different anomalies. The anterior segment involves complex interactions in four developing tissues: neuroectoderm, neural crest, surface ectoderm and mesoderm. The genes involved in the pathogenesis of the phenotypes described in this section are often transcription factors. These genes influence downstream gene regulation. This occurs over varied temporal and spatial domains in the development of the embryo. Epigenetic phenomena also play a part in the very variable phenotypes seen in specific gene disorders. Wherever possible reference to On-line Mendelian Inheritance in Man (OMIM) is given.

Chapter.  12007 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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