Autosomal dominant retinitis pigmentosa. A mutation in codon 181 (Glu-->Lys) of the rhodopsin gene in a Japanese family

Ophthalmic Genet. 1994 Jun;15(2):61-7. doi: 10.3109/13816819409098865.


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 RP) 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 I category of ad RP).

MeSH terms

  • Adult
  • Base Sequence
  • Codon / genetics*
  • DNA Mutational Analysis
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Glutamic Acid / genetics
  • Humans
  • Japan
  • Lysine / genetics
  • Molecular Sequence Data
  • Photoreceptor Cells / pathology
  • Point Mutation*
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*
  • Visual Fields


  • Codon
  • Glutamic Acid
  • Rhodopsin
  • Lysine