Genetics of congenital cataract

A. Shiels, J. F. Hejtmancik

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Inherited cataracts make up a substantial fraction of the cataracts present at birth. Most inherited congenital cataracts are accounted for by mutation in genes encoding abundant cytoplasmic or membrane proteins of lens fiber cells. The remaining inherited congenital cataracts are due to mutations in a large and growing number of genes. Identification of these genes is providing insight into the processes required for normal lens development and suggesting candidates for genes that may contribute to inherited cataracts later in life.

Original languageEnglish
Title of host publicationEncyclopedia of the Eye
PublisherElsevier
Pages211-216
Number of pages6
ISBN (Electronic)9780123742032
ISBN (Print)9780123741981
DOIs
StatePublished - Jan 1 2010

Keywords

  • Aquaporin 0
  • Beaded filament structural proteins
  • Cataract
  • Childhood
  • Congenital
  • Connexin
  • Crystallin
  • Heat-shock factor 4
  • Juvenile
  • Lens

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    Shiels, A., & Hejtmancik, J. F. (2010). Genetics of congenital cataract. In Encyclopedia of the Eye (pp. 211-216). Elsevier. https://doi.org/10.1016/B978-0-12-374203-2.00037-3