PDF(Pubmed)
Abstract：
Inherited retinal diseases (IRDs) represent one of the major causes of progressive and irreversible vision loss in the working-age population. Over the last few decades, advances in retinal imaging have allowed for an improvement in the phenotypic characterization of this group of diseases and have facilitated phenotype-to-genotype correlation studies. As a result, the number of clinical trials targeting IRDs has steadily increased, and commensurate to this, the need for novel reproducible outcome measures and endpoints has grown. This review aims to summarize and describe the clinical presentation, characteristic imaging findings, and imaging endpoint measures that are being used in clinical research on IRDs. For the purpose of this review, IRDs have been divided into four categories: (1) panretinal pigmentary retinopathies affecting rods or cones; (2) macular dystrophies; (3) stationary conditions; (4) hereditary vitreoretinopathies.
摘要：
遗传性视网膜疾病（IRD）是工作年龄人群进行性和不可逆视力丧失的主要原因之一。在过去的几十年里，视网膜成像的进展使得该组疾病的表型特征得到改善,并促进了表型与基因型的相关性研究.因此,针对IRD的临床试验数量稳步增加，与此相称，对新的可重复结局指标和终点的需求不断增长.这篇综述旨在总结和描述临床表现，特征性影像学发现，和用于IRD临床研究的成像终点测量。就本次审查而言，IRD分为四类：（1）影响视杆或视锥细胞的全视网膜色素视网膜病变；（2）黄斑营养不良；（3）静止状态；（4）遗传性玻璃体视网膜病变。
