[The genetics of hereditary cataract]

J Fr Ophtalmol. 2003 Apr;26(4):400-8.
[Article in French]

Abstract

Congenital cataracts are an important cause of visual impairment in children. Approximately one-third of congenital cataracts are hereditary. The disease, when inherited as an isolated abnormality, is phenotypically and genetically heterogeneous. Autosomal dominant forms with high penetrance appear to be the most common. To date, thirteen genes have been implicated in cataractogenesis. The identification of the genetic mutations causing congenital cataracts will provide a better understanding of cataractogenesis in childhood and provide further insights into normal lens development.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Aquaporins
  • Cataract / classification
  • Cataract / congenital*
  • Cataract / genetics*
  • Chromosome Mapping
  • Connexins / genetics
  • Crystallins / genetics*
  • Eye Proteins / genetics
  • Ferritins / genetics
  • Genes, Dominant
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Lens, Crystalline / embryology
  • Membrane Glycoproteins / genetics
  • Mutation
  • Transcription Factors / genetics

Substances

  • Aquaporins
  • Connexins
  • Crystallins
  • Eye Proteins
  • Membrane Glycoproteins
  • Transcription Factors
  • aquaporin 0
  • Ferritins