Genetic eye diseases are phenotypically and genetically heterogeneous, affecting 1 in 1,000 people worldwide. This prevalence can increase in populations where endogamy is a social preference, such as in Arab populations. A retrospective consecutive cohort of 91 patients from 74 unrelated families affected with non‐syndromic and syndromic inherited eye disease presenting to the ocular genetics service at Moorfields Eye Hospitals United Arab Emirates (UAE) between 2017 and 2019, underwent clinically accredited genetic testing using targeted gene panels. The mean ± SD age of probands was 27.4 ± 16.2 years, and 45% were female (41/91). The UAE has a diverse and dynamic population, and the main ethnicity of families in this cohort was 74% Arab (n = 55), 8% Indian (n = 6) and 7% Pakistani (n = 5). Fifty‐six families (90.3%) were genetically solved, with 69 disease‐causing variants in 40 genes. Fourteen novel variants were detected with large deletions in CDHR1 and TTLL5, a multiexon (1–8) duplication in TEAD1 and 11 single nucleotides variants in 9 further genes. ABCA4‐retinopathy was the most frequent cause accounting for 21% of cases, with the confirmed UAE founder mutation c.5882G>A p.(Gly1961Glu)/c.2570T>C p.(Leu857Pro) in 25%. High diagnostic yield for UAE patients can guide prognosis, family decision‐making, access to clinical trials and approved treatments.

中文翻译：

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来自阿拉伯联合酋长国的 74 个连续家族的遗传性眼病的遗传景观。

遗传性眼病在表型和遗传上具有异质性，全世界每 1,000 人中就有 1 人受到影响。这种流行可能会在以内婚为社会偏好的人群中增加，例如在阿拉伯人群中。2017 年至 2019 年期间在阿拉伯联合酋长国 Moorfields 眼科医院 (UAE) 就诊的 74 个不相关家庭的 91 名患有非综合征性和综合征性遗传性眼病的患者的回顾性连续队列，接受了临床认可的使用靶向基因的基因检测面板。先证者的平均 ±  SD年龄为 27.4 ± 16.2 岁，45% 为女性 (41/91)。阿联酋拥有多元化且充满活力的人口，该队列中家庭的主要种族是 74% 的阿拉伯人（n = 55），8% 的印度人（n= 6) 和 7% 的巴基斯坦人 ( n = 5)。56 个家族 (90.3%) 已通过基因解决，其中 40 个基因中有 69 个致病变异。在CDHR1和TTLL5中检测到 14 个新变体，其中TEAD1中存在多外显子 (1-8) 重复，另外 9 个基因中存在 11 个单核苷酸变体。ABCA4视网膜病变是最常见的原因，占病例的 21%，其中 25% 的病例中确认的阿联酋创始人突变 c.5882G>A p.(Gly1961Glu)/c.2570T>C p.(Leu857Pro)。阿联酋患者的高诊断率可以指导预后、家庭决策、获得临床试验和批准的治疗。