Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family

Acta Ophthalmol Scand. 1997 Apr;75(2):218-23. doi: 10.1111/j.1600-0420.1997.tb00129.x.

Abstract

We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype. Further, point mutations in this specific region seem to cause an agressive form of retinitis pigmentosa.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Arginine / genetics*
  • Child
  • DNA Mutational Analysis
  • DNA Primers / chemistry
  • Electroretinography
  • Female
  • Fundus Oculi
  • Genes, Dominant / genetics
  • Genetic Testing
  • Humans
  • Leucine / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Retinitis Pigmentosa / physiopathology
  • Rhodopsin / genetics*
  • Visual Fields

Substances

  • DNA Primers
  • Rhodopsin
  • Arginine
  • Leucine