Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family

Ophthalmic Genet. 1994 Jun;15(2):51-60. doi: 10.3109/13816819409098864.


A mother and daughter with autosomal dominant retinitis pigmentosa (adRP) were found to carry a cytosine-to-adenine transversion mutation at codon 4 of the rhodopsin gene. This mutation predicts a substitution of lysine for threonine at one of the glycosylation sites in the rhodopsin molecule (Thr4Lys). Both patients presented with a similar phenotype including a tigroid pattern of the posterior pole and a regional predilection for degenerative pigmentary changes in the inferior retina with corresponding visual field defects. The electroretinographic pattern was suggestive of RP of the cone-rod type. This report documents the clinical findings associated with this defined mutation of the rhodopsin gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Codon / genetics*
  • Electroretinography
  • Female
  • Fundus Oculi
  • Humans
  • Lysine
  • Middle Aged
  • Netherlands
  • Pedigree
  • Photoreceptor Cells / pathology*
  • Point Mutation*
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Rhodopsin / genetics*
  • Threonine
  • Vision Tests
  • Visual Fields


  • Codon
  • Threonine
  • Rhodopsin
  • Lysine