视网膜变性（retinal degeneration, RD）包含一类遗传性视网膜病变，是目前不可逆致盲性眼病的最主要原因。RD有多种类型及遗传方式，其中视网膜色素变性（RP）是常见类型。RD临床表现多样，通常仅有眼部受累，也可是多系统病的眼部表现；发病可从出生至成年。由于不同类型的RD患病率从1/4000至1/80000,均为罕见病，这些类型特别容易被混淆。目前已知的和遗传性视网膜变性相关的基因超过100个。这给视网膜变性的临床诊断和基因研究带来巨大挑战。本课题组基于数千例视网膜变性的诊断经验总结出实用的诊断策略，在国内领先。我们采用目标DNA捕获及二代测序技术对RP的小样本研究，一次性可筛查163个相关基因，获得成功。本次申请课题将研究基因扩大至200个以上，针对 300名不同类型的RD，将发现RD新的基因型和表型的相关性,确定我国RD的基因突变谱。

Retinal degeneration(RD), which includes a group of inherited retinal diseases,is the leading cause of irreversible blindness.Most of RD is inherited in diffrent modes and have many clinical types. Retinitis pigmentosa is the most common type of RD.The clinical manifestations of RD are highly heterogeneous. Usually,only eye is involved. It also may be part of systemic syndromes.The prevalence of RD ranges from 1/4000 to 1/80000 according to the specific type.It is hard to differentiate different type of RD.To date,over 100 genes have been linked to RD.The clinical and genetic studies on RD is made challenging by the large number of disease genes and diversity of clinical apprances of RD.Our expertise in RD diagnosis gained from thousands of cases places us to the leading position in this field. Our recent research paper about RP study using targeted DNA capture and next-generation sequencing technology is a successful example and strong foundation for future study. In this proposal,we will upgrade the retinal gene panal to cover more than RD and candidate 200 genes and to expand sample size to 300 RD probands. Novel genotype-phynotype correlations will be characterized.Whole picture of Chinese RD mutation spectrum will be illustrated.