Genetics of congenital cataract

Alan Shiels, J. Fielding Hejtmancik

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Inherited cataracts make up a substantial fraction of the cataracts present at birth. Most inherited congenital cataracts are accounted for by mutations in genes encoding abundant cytoplasmic crystallins or membrane proteins of lens fiber cells. The remaining inherited congenital cataracts are due to mutations in a large and growing number of genes, especially those encoding transcription factors, intermediate filaments, and the protein degradation apparatus. 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 publicationThe Curated Reference Collection in Neuroscience and Biobehavioral Psychology
PublisherElsevier Science Ltd.
Number of pages6
ISBN (Electronic)9780128093245
StatePublished - Jan 1 2016


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


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