Molecular aspects of retinal degenerative diseases

Cell Mol Neurobiol. 2001 Dec;21(6):575-89. doi: 10.1023/a:1015183500719.


Retinal degeneration, either acquired or inherited, is a major cause of visual impairment and blindness in humans. Inherited retinal degeneration comprises a large group of diseases that result in the loss of photoreceptor cells. To date, 131 retinal disease loci have been identified, and 76 of the genes at these loci have been isolated (RetNet Web site). Several of these genes were first considered candidates because of their chromosomal localization or homology to genes involved in retinal degeneration in other organisms. In this review, I will discuss recent advances in the identification of genes that cause retinal degeneration, and I will describe the mechanisms of photoreceptor death and potential treatments for retinal degenerative diseases.

Publication types

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

MeSH terms

  • Animals
  • Apoptosis / genetics*
  • Gene Expression Regulation, Developmental / genetics
  • Genetic Linkage / genetics
  • Humans
  • Mutation / genetics
  • Photoreceptor Cells / metabolism*
  • Photoreceptor Cells / physiopathology
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / metabolism
  • Retinal Degeneration / physiopathology
  • Vision, Ocular / genetics