Molecular genetics of cataract

Dev Ophthalmol. 2003:37:67-82. doi: 10.1159/000072039.


Advances in genetic technology and analytical algorithms have greatly accelerated elucidation of the genetic contribution to cataractogenesis. Currently, 27 isolated or primary cataract loci have been identified by linkage analysis or mutational screening, and 20 are associated with specific genes. These are beginning to provide a framework for thinking of congenital cataracts. In addition to clues provided by the study of congenital and childhood cataracts, new experimental approaches to age-related cataracts are beginning to provide insights into its genetic origins.

Publication types

  • Review

MeSH terms

  • Cataract / congenital
  • Cataract / genetics*
  • Humans
  • Molecular Biology