Nakazawa M, Wada Y, Tamai M
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
Retina. 1995;15(6):518-23. doi: 10.1097/00006982-199515060-00011.
Mutations of the peripherin/RDS gene have been reported in several kinds of retinal dystrophy, and they show variation of manifestation. In some pedigrees, the same mutation can produce different phenotypic features, a factor that makes it difficult to deduce certain rules for genotype-phenotype correlations in the peripherin/RDS gene. The authors report the phenotypic features of a Japanese family with a mutation in codon 172 of the peripherin/RDS gene and compare them to previously reported ocular findings in British pedigrees with the same mutation.
A 45-year-old man and his 15-year-old son were screened for mutations in the peripherin/RDS gene and the ROM1 gene. Clinical features were characterized by visual acuity and visual field testing, fundus examination, fluorescein angiography, and electroretinography.
Both patients had the same mutation in codon 172 of the peripherin/RDS gene designated as Arg172Trp. No mutation was found in the ROM1 gene in either patient. Clinical features were summarized as autosomal dominant macular dystrophy. The father had sharply demarcated chorioretinal atrophy in the macula. The son showed mild granularity in the macular area in ophthalmoscopic appearances.
The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy. This particular phenotype was caused by the monogenic mutation in the peripherin/RDS gene.
外周蛋白/RDS基因的突变已在多种视网膜营养不良中被报道，且表现出变异性。在一些家系中，相同的突变可产生不同的表型特征，这使得难以推断外周蛋白/RDS基因中基因型与表型相关性的某些规律。作者报告了一个外周蛋白/RDS基因第172密码子发生突变的日本家系的表型特征，并将其与先前报道的具有相同突变的英国家系的眼部表现进行比较。
对一名45岁男性及其15岁儿子进行外周蛋白/RDS基因和ROM1基因的突变筛查。通过视力和视野检查、眼底检查、荧光素血管造影和视网膜电图来表征临床特征。
两名患者外周蛋白/RDS基因的第172密码子均有相同突变，命名为Arg172Trp。两名患者的ROM1基因均未发现突变。临床特征总结为常染色体显性黄斑营养不良。父亲黄斑区脉络膜视网膜萎缩界限清晰。儿子在检眼镜检查中黄斑区表现为轻度颗粒状。
已证实Arg172Trp突变可导致常染色体显性黄斑营养不良。这种特定表型是由外周蛋白/RDS基因中的单基因突引起的。
