A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations

S Afr Med J. 1999 Aug;89(8):877-8.

Abstract

Hereditary retinal degenerations may be subdivided into those affecting predominantly the central (macular) or peripheral regions of the retina. Retinitis pigmentosa (RP) affects the photoreceptors; death of the rod cells is followed by a progressive loss of cone cells, resulting in relatively early loss of peripheral vision and progressive constriction of the visual fields. A mutation in the gene encoding the photoreceptor protein, rhodopsin, was the first molecular defect identified as a potential cause of inherited retinal degeneration (RD). In the study reported here, simple tests for rhodopsin involvement in 194 southern African patients with a history of retinal degeneration, including 14 black African patients, were performed. Two RP patients were identified with disease-causing mutations in the rhodopsin gene: one from a black African family in which a codon 347 mutation resulted in a Pro-Leu substitution, and one in a family of Caucasian origin where a codon 58 alteration resulted in a Thr-Arg substitution. This is the first report of a disease-causing rhodopsin mutation in an indigenous black African family with retinitis pigmentosa.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Black People / genetics*
  • Codon
  • Humans
  • Mutation*
  • Photoreceptor Cells / metabolism*
  • Polymerase Chain Reaction / methods
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*
  • Rhodopsin / physiology
  • South Africa

Substances

  • Codon
  • Rhodopsin