Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa

Arch Ophthalmol. 1991 Oct;109(10):1387-93. doi: 10.1001/archopht.1991.01080100067044.


Eight members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-guanine (C-to-G) transversion mutation in the second nucleotide of codon 58 of the rhodopsin gene, causing a substitution of the amino acid arginine for threonine. Five of these individuals were examined clinically. There was a distinct phenotypic expression of the gene defect within this family that included a regional predilection for pigmentary changes in the inferior and inferonasal parts of the retina, as well as field impairment predominantly in the superior hemisphere. Characteristic electroretinographic recordings and psychophysical threshold profiles also helped to identify this phenotype that, on a relative basis, causes less severe photoreceptor cell functional impairment than often occurs in other subtypes of retinitis pigmentosa. This report documents the association of a clinically recognizable phenotype in a family with autosomal dominant retinitis pigmentosa and a specific gene defect at the molecular level.

Publication types

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

MeSH terms

  • Adult
  • Arginine / genetics
  • Base Sequence
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Codon / genetics*
  • DNA Mutational Analysis
  • Electrophoresis, Polyacrylamide Gel
  • Electroretinography
  • Female
  • Fundus Oculi
  • Gene Expression
  • Genes, Dominant / genetics*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutagenesis
  • Pedigree
  • Phenotype
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Rhodopsin / genetics*
  • Threonine / genetics
  • Visual Fields


  • Codon
  • Threonine
  • Rhodopsin
  • Arginine