RETINITIS-PIGMENTOSA ASSOCIATED WITH A DOMINANT MUTATION IN CODON-46 OF THE PERIPHERIN/RDS GENE (ARGININE-46-STOP)

被引：29

作者：

LAM, BL

VANDENBURGH, K

SHEFFIELD, VC

STONE, EM

机构：

[1] UNIV ARKANSAS MED SCI HOSP,DEPT OPHTHALMOL,LITTLE ROCK,AR 72205

[2] UNIV IOWA,COLL MED,DEPT OPHTHALMOL,IOWA CITY,IA 52242

[3] UNIV IOWA,COLL MED,DEPT PEDIAT,IOWA CITY,IA 52242

来源：

AMERICAN JOURNAL OF OPHTHALMOLOGY | 1995年 / 119卷 / 01期

关键词：

D O I：

10.1016/S0002-9394(14)73815-2

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

PURPOSE: We identified genetic mutations and characterized their associated phenotypes in patients with retinitis pigmentosa. METHODS: Patients with retinitis pigmentosa were prospectively examined and screened for genetic mutations. RESULTS: A 46-year-old man with retinitis pigmentosa was found to have a heterozygous mutation in the peripherin/RDS gene (arginine 46-stop). He had late onset of symptoms and demarcated peripheral retinal atrophy. All five first degree relatives including his parents had no detectable mutations or retinitis pigmentosa. Genotypic data were consistent with reported family structure. CONCLUSIONS: This study shows that new dominant mutations are a rare cause of: isolated, or simplex, cases of retinitis pigmentosa. Identification of these mutations is helpful for genetic counseling.

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页码：65 / 71

页数：7

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