Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family.
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.
van den Born
L I
LI
Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam.
van Schooneveld
M J
MJ
de Jong
L A
LA
Riemslag
F C
FC
de Jong
P T
PT
Gal
A
A
Bleeker-Wagemakers
E M
EM
D000328:Adult; D003062:Codon / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008239:Lysine; D008875:Middle Aged; D009426:Netherlands; D010375:Pedigree; D010786:Photoreceptor Cells / Q000473:pathology*; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics*; D013912:Threonine; D014787:Vision Tests; D014794:Visual Fields
D003062:Codon; D013912:Threonine; D012243:Rhodopsin; D008239:Lysine