Signal transduction in the retina and inherited retinopathies

被引：23

作者：

Shastry, BS

机构：

[1] Eye Research Institute, Oakland University, 422 Dodge Hall, Rochester

来源：

CELLULAR AND MOLECULAR LIFE SCIENCES | 1997年 / 53卷 / 05期

关键词：

signal transduction; retina; retinopathies; mutations; rhodopsin; peripherin/RDS; genotype; degeneration;

D O I：

10.1007/s000180050050

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In this paper, an attempt is made to highlight some of the recent developments in genetics to understand the group of inherited eye disorders referred to as retinitis pigmentosa (RP). Of the seven genes identified, six are expressed specifically in the photoreceptor cells and four encode the enzymes involved in the phototransduction pathway. A short discussion is presented of the tremendous phenotypic heterogeneity. An understanding of RP requires knowledge of other genetic and environmental factors as well as tests to measure the status of the patient's photoreceptor cells in various disease stages.

引用

收藏

页码：419 / 429

页数：11

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