Kohl S, Giddings I, Besch D, Apfelstedt-Sylla E, Zrenner E, Wissinger B
Molekulargenetisches Labor, Universitäts-Augenklinik Tübingen, Deutschland.
Acta Anat (Basel). 1998;162(2-3):75-84. doi: 10.1159/000046471.
Peripherin/RDS is a transmembrane glycoprotein expressed in vertebrate photoreceptors. It is located at the rim of the disc membranes of the photoreceptor outer segments, where it is thought to play an important role in folding and stacking of the discs. Initially, the identification of a mutation in the rds mouse model defined the role of this gene in hereditary retinal dystrophies. To date over 60 different mutations have been reported in human retinal diseases, with most being restricted to single families. A characteristic of mutations in the peripherin/RDS gene is the broad phenotypic spectrum in patients, and the variability in clinical expression, even within families. Thus, genotype-phenotype correlations are difficult and only reliable for a minority of mutations.
外周蛋白/视网膜变性慢（Peripherin/RDS）是一种在脊椎动物光感受器中表达的跨膜糖蛋白。它位于光感受器外段盘状膜的边缘，据认为在盘状膜的折叠和堆叠中起重要作用。最初，rds小鼠模型中一个突变的鉴定确定了该基因在遗传性视网膜营养不良中的作用。迄今为止，在人类视网膜疾病中已报道了60多种不同的突变，其中大多数仅限于单个家族。外周蛋白/RDS基因突变的一个特点是患者的表型谱广泛，且临床表达存在变异性，即使在家族内部也是如此。因此，基因型与表型的相关性很难确定，只有少数突变的相关性可靠。
