Autosomal dominant retinitis pigmentosa: A mutation in codon 1 81 (Glu → Lys) of the rhodopsin gene in a Japanese family

Masamichi Saga, Yukihiko Mashima, Kiyoshi Akeo, Yoshihisa Oguchi, Jun Kudoh, Nobuyoshi Shimizu

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad R p) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early onset of symptoms in childhood with a diffuse loss of rod and cone function and a relatively good preservation of cone function, corresponding to the type with relatively rapid progression to blindness (type 1 category of ad RP).

Original languageEnglish
Pages (from-to)61-67
Number of pages7
JournalOphthalmic Genetics
Volume15
Issue number2
DOIs
Publication statusPublished - 1994 Jan 1

Keywords

  • Autosomal dominant retinitis pigmentosa
  • Japanese
  • Mutation
  • Rhodopsin

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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