Genetic mapping of retinitis pigmentosa--implications for South African patients

S Afr Med J. 1994 Jul;84(7):410-2.

Abstract

The term 'retinitis pigmentosa' (RP) encompasses a group of hereditary degenerative disorders of the retina, which are both genetically and clinically heterogeneous. The finding of molecular markers for certain forms of RP potentially allows for presymptomatic and prenatal diagnosis of a proportion of RP families. These developments and their implications for affected South African families are highlighted in this article.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Prenatal Diagnosis
  • Research
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • X Chromosome

Substances

  • Genetic Markers