Molecular genetics of retinitis pigmentosa

Hum Mol Genet. 1995:4 Spec No:1739-43. doi: 10.1093/hmg/4.suppl_1.1739.

Abstract

Hereditary degenerations and dysfunctions of the retina are an extremely heterogeneous group of diseases. This summary deals with recent advances in the molecular genetics of a subset of those disorders, namely, those encompassed under the diagnosis 'retinitis pigmentosa'. Over 20 loci where mutations cause retinitis pigmentosa have been mapped; the review focuses on the seven retinitis pigmentosa loci that have been identified.

Publication types

  • Review

MeSH terms

  • Humans
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics

Substances

  • Rhodopsin