Abstract：
Inherited retinal dystrophies (IRDs) are a group of rare diseases involving more than 340 genes and a variety of clinical phenotypes that lead to significant visual impairment. The aim of this study is to evaluate the rates and genetic characteristics of IRDs in the southeastern region of the United States (US). A retrospective chart review was performed on 325 patients with a clinical diagnosis of retinal dystrophy. Data including presenting symptoms, visual acuity, retinal exam findings, imaging findings, and genetic test results were compiled and compared to national and international IRD cohorts. The known ethnic groups included White (64%), African American or Black (30%), Hispanic (3%), and Asian (2%). The most prevalent dystrophies identified clinically were non-syndromic retinitis pigmentosa (29.8%), Stargardt disease (8.3%), Usher syndrome (8.3%), cone-rod dystrophy (8.0%), cone dystrophy (4.9%), and Leber congenital amaurosis (4.3%). Of the 101 patients (31.1%) with genetic testing, 54 (53.5%) had causative genetic variants identified. The most common pathogenic genetic variants were USH2A (n = 11), ABCA4 (n = 8), CLN3 (n = 7), and CEP290 (n = 3). Our study provides initial information characterizing IRDs within the diverse population of the southeastern US, which differs from national and international genetic and diagnostic trends with a relatively high proportion of retinitis pigmentosa in our African American or Black population and a relatively high frequency of USH2A pathogenic variants.
摘要：
遗传性视网膜营养不良（IRD）是一组罕见的疾病，涉及340多个基因和多种临床表型，导致明显的视力损害。这项研究的目的是评估美国（US）东南部地区IRD的发生率和遗传特征。对325例临床诊断为视网膜营养不良的患者进行了回顾性图表回顾。数据包括呈现症状，视敏度,视网膜检查结果,影像学发现，和基因检测结果被汇编并与国家和国际IRD队列进行比较。已知的种族包括白人（64％），非洲裔美国人或黑人（30％）西班牙裔（3％），亚洲（2%）。临床上最常见的营养不良是非综合征性视网膜色素变性（29.8％），Stargardt病(8.3%),Usher综合征(8.3%),锥杆营养不良（8.0%），视锥细胞营养不良（4.9%），和Leber先天性黑蒙（4.3％）。在101名接受基因检测的患者中(31.1%)，54（53.5％）具有致病性遗传变异。最常见的致病遗传变异是USH2A（n=11），ABCA4（n=8），CLN3（n=7），和CEP290(n=3)。我们的研究提供了表征美国东南部不同人群中IRD的初步信息，这与国家和国际遗传和诊断趋势不同，在我们的非裔美国人或黑人人群中，色素性视网膜炎的比例相对较高，而USH2A致病变异的频率相对较高。
