Molecular genetics of human retinal disease

Annu Rev Genet. 1999;33:89-131. doi: 10.1146/annurev.genet.33.1.89.


The past decade has witnessed extraordinary progress in retinal disease gene identification, the analysis of animal and tissue culture models of disease processes, and the integration of this information with clinical observations and with retinal biochemistry and physiology. During this period over twenty retinal disease genes were identified and for many of these genes there are now significant insights into their role in disease. This review presents an overview of the basic and clinical biology of the retina, summarizes recent progress in understanding the molecular mechanisms of inherited retinal diseases, and offers an assessment of the role that genetics will play in the next phase of research in this area.

Publication types

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

MeSH terms

  • Humans
  • Molecular Biology*
  • Retina / anatomy & histology
  • Retina / physiology*
  • Retinal Diseases / genetics*
  • Vision, Ocular