THR4LYS RHODOPSIN MUTATION IS ASSOCIATED WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA OF THE CONE-ROD TYPE IN A SMALL DUTCH FAMILY

被引：26

作者：

VANDENBORN, LI

VANSCHOONEVELD, MJ

DEJONG, LAMS

RIEMSLAG, FCC

DEJONG, PTVM

GAL, A

BLEEKERWAGEMAKERS, EM

机构：

[1] Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam

[2] Institute of Ophthalmology, Erasmus University, Rotterdam

[3] Department of Visual System Analysis, The Netherlands Ophthalmic Research Institute, Amsterdam

[4] Institut für Humangenetik, Medizinische Universität, Lubeck

来源：

OPHTHALMIC GENETICS | 1994年 / 15卷 / 02期

关键词：

RETINITIS-PIGMENTOSA; AUTOSOMAL DOMINANT INHERITANCE; RHODOPSIN MUTATION; CONE-ROD TYPE;

D O I：

10.3109/13816819409098864

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：51 / 60

页数：10