A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes

Mol Vis. 2000 Jul 8:6:116-24.


The family of inherited ocular diseases that is collectively known as retinitis pigmentosa is a major cause of progressive retinal disease worldwide. As such, this family of diseases has been the object of much scientific scrutiny, both clinical and basic. The recent application of molecular genetic analyses has heralded the rapid elucidation of the underlying gene defects in many cases. In this article, the fundamental clinical and electroretinographic characteristics of retinitis pigmentosa will be recalled. Additionally, the current understanding of the genetic causes of retinitis pigmentosa will be reviewed, and the identified causative genes will be classified into groups related by function.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Electroretinography
  • Eye Proteins / classification
  • Eye Proteins / genetics
  • Humans
  • Mutation
  • Photoreceptor Cells / pathology
  • Photoreceptor Cells / physiology
  • Retina / metabolism
  • Retina / pathology
  • Retina / physiopathology
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / metabolism
  • Retinitis Pigmentosa / physiopathology
  • Vision, Ocular / genetics


  • Eye Proteins