Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient

Am J Ophthalmol. 1993 Feb 15;115(2):168-73. doi: 10.1016/s0002-9394(14)73920-0.


A 49-year-old Japanese man had autosomal dominant retinitis pigmentosa with a point mutation in codon 17 of the rhodopsin gene, resulting in a threonine-to-methionine change, and retinal neovascularization in both eyes. Pigmentary degeneration mainly in the inferior area of the fundus, and severe loss in the upper portion of the visual field were observed. Moderately preserved rod and cone functions were demonstrated by electroretinograms. These findings differed from those of Japanese and white patients with autosomal dominant retinitis pigmentosa with a codon 347 mutation and were almost the same as those of white patients with the codon 17 mutation. Our study indicates that phenotypic similarities exist among patients with the same mutation, but of different racial backgrounds. The neovascularization in the right eye diminished over a two-year period in conjunction with the progression of retinal degeneration.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptation, Ocular
  • Base Sequence
  • Codon / genetics*
  • DNA / genetics
  • DNA / isolation & purification
  • Electroretinography
  • Female
  • Fluorescein Angiography
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Neovascularization, Pathologic*
  • Oligonucleotide Probes
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction / methods
  • Retinal Degeneration / etiology
  • Retinal Degeneration / pathology
  • Retinal Vessels / pathology*
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Retinitis Pigmentosa / physiopathology*
  • Rhodopsin / genetics*


  • Codon
  • Oligonucleotide Probes
  • DNA
  • Rhodopsin