Genetic testing in a multisite clinical trial network for inherited eye conditions is described in this retrospective review of data collected through eyeGENE®, the National Ophthalmic Disease Genotyping and Phenotyping Network. Participants in eyeGENE were enrolled through a network of clinical providers throughout the United States and Canada. Blood samples and clinical data were collected to establish a phenotype:genotype database, biorepository, and patient registry. Data and samples are available for research use, and participants are provided results of clinical genetic testing. eyeGENE utilized a unique, distributed clinical trial design to enroll 6,403 participants from 5,385 families diagnosed with over 30 different inherited eye conditions. The most common diagnoses given for participants were retinitis pigmentosa (RP), Stargardt disease, and choroideremia. Pathogenic variants were most frequently reported in ABCA4 (37%), USH2A (7%), RPGR (6%), CHM (5%), and PRPH2 (3%). Among the 5,552 participants with genetic testing, at least one pathogenic or likely pathogenic variant was observed in 3,448 participants (62.1%), and variants of uncertain significance in 1,712 participants (30.8%). Ten genes represent 68% of all pathogenic and likely pathogenic variants in eyeGENE. Cross‐referencing current gene therapy clinical trials, over a thousand participants may be eligible, based on pathogenic variants in genes targeted by those therapies. This article is the first summary of genetic testing from thousands of participants tested through eyeGENE, including reports from 5,552 individuals. eyeGENE provides a launching point for inherited eye research, connects researchers with potential future study participants, and provides a valuable resource to the vision community.

中文翻译：

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通过 eyeGENE 网络对 6,000 多人进行遗传性眼部疾病的基因检测。

在对通过国家眼科疾病基因分型和表型网络 eyeGENE® 收集的数据进行的回顾性审查中描述了遗传性眼病的多站点临床试验网络中的基因检测。eyeGENE 的参与者通过美国和加拿大的临床提供者网络进行招募。收集血液样本和临床数据以建立表型：基因型数据库、生物储存库和患者登记处。数据和样本可供研究使用，并为参与者提供临床基因检测的结果。eyeGENE 利用独特的分布式临床试验设计招募了来自 5,385 个家庭的 6,403 名参与者，这些家庭被诊断出患有 30 多种不同的遗传性眼病。参与者最常见的诊断是色素性视网膜炎 (RP)、Stargardt 病、和无脉络膜症。致病性变异最常报道于ABCA4 (37%)、USH2A (7%)、RPGR (6%)、CHM (5%) 和PRPH2(3%)。在接受基因检测的 5,552 名参与者中，3,448 名参与者 (62.1%) 至少观察到一种致病性或可能致病性变异，1,712 名参与者 (30.8%) 中观察到了不确定意义的变异。10 个基因占 eyeGENE 中所有致病和可能致病变异的 68%。交叉参考当前的基因治疗临床试验，根据这些疗法靶向的基因的致病变异，可能有超过一千名参与者符合条件。本文是通过 eyeGENE 测试的数千名参与者的基因测试的第一个摘要，包括来自 5,552 个人的报告。eyeGENE 为遗传眼科研究提供了一个起点，将研究人员与潜在的未来研究参与者联系起来，并为视觉界提供了宝贵的资源。