遗传性视网膜变性的种族差异。

IF 2.8 4区 医学 Q1 OPHTHALMOLOGY
Kirk A J Stephenson, Shanil R Dhanji, Olubayo U Kolawole, Cheryl Y Gregory-Evans, Kevin Gregory-Evans
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引用次数: 0

摘要

目的:遗传性视网膜变性(IRD)具有临床异质性。关于种族对IRD表型影响的研究很少。我们的目的是评估受IRD影响的不同种族群体之间的临床和遗传变异。设计:回顾性队列研究。参与者:在单一中心(不列颠哥伦比亚大学)的遗传解决的IRD (ABCA4, USH2A, RPGR)患者。方法:对比不同种族(高加索人、东亚人、南亚人、土著人、非洲人)以及高加索人和非高加索人的临床和遗传资料。结果:143例患者符合纳入标准。白种人的比例过高(76%)。对于ABCA4,东亚人最常见的是靶心黄斑病变,而经典的Stargardt病在其他种族中占主导地位;白内障在非白种人中发病率较低(p = 0.001)。对于USH2A,大多数非白种人患有非综合征性IRD,而白种人50%为孤立性,50%为Usher综合征。超自体荧光环在非白种人中更为常见(p = 0.027)。在RPGR中,白种人的最佳矫正视力(logMAR 0.76±0.69)低于非白种人(0.49±0.30);p = 0.047),南亚人近视发生率最高(-9.56±0.27 D vs -3.82±4.05 D;P < 0.001)。共鉴定出21个新的遗传变异,只有3.3%(5/135)的遗传变异在族群间共享。结论:不同种族之间的临床和遗传差异是明显的,即使在“共同”的IRD基因型中也是如此。了解这些不同的视网膜和视网膜外(例如,近视,不太有利的视网膜)特征对于促进诊断准确性和最佳临床护理至关重要,包括获得新的治疗方法。需要进一步扩大非高加索族裔群体的遗传参考数据库,以促进公平获得IRD的诊断和治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Ethnic disparities in inherited retinal degenerations.

Objective: Inherited retinal degenerations (IRD) are clinically heterogeneous. There has been little study of the influence of ethnicity on IRD phenotypes. We aim to assess clinical and genetic variability between differing ethnic groups affected by IRD.

Design: Retrospective cohort study.

Participants: Patients with genetically resolved IRD (ABCA4, USH2A, RPGR) at a single centre (University of British Columbia).

Methods: Clinical and genetic data were contrasted between ethnic groups (Caucasian, East Asian, South Asian, Indigenous, African) and between Caucasians and non-Caucasians.

Results: 143 patients met the inclusion criteria. Caucasians were over-represented (76%). For ABCA4, East Asians most commonly had bullseye maculopathy, while classic Stargardt disease predominated in other ethnicities; cataract was less prevalent in non-Caucasians (p = 0.001). For USH2A, most non-Caucasians had non-syndromic IRD, while Caucasians were 50% isolated and 50% Usher syndrome. Hyperautofluorescent rings were more common in non-Caucasians (p = 0.027). In RPGR, best-corrected visual acuity was worse for Caucasians (logMAR 0.76 ± 0.69) than non-Caucasians (0.49 ± 0.30; p = 0.047), and myopia was greatest in South Asians (-9.56 ± 0.27 D vs -3.82 ± 4.05 D; p < 0.001). Twenty-one novel genetic variants were identified, and only 3.3% (5/154) of genetic variants were shared between ethnic groups.

Conclusions: Clinical and genetic differences are apparent between ethnic groups, even within "common" IRD genotypes. Awareness of these different retinal and extra-retinal (e.g., myopia, less favourable VA) features is critical to facilitate diagnostic accuracy and optimal clinical care, including access to novel therapies. Further work to expand the genetic reference databases for non-Caucasian ethnic groups is needed to facilitate equitable access to diagnosis and treatment for IRD.

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来源期刊
CiteScore
3.20
自引率
4.80%
发文量
223
审稿时长
38 days
期刊介绍: Official journal of the Canadian Ophthalmological Society. The Canadian Journal of Ophthalmology (CJO) is the official journal of the Canadian Ophthalmological Society and is committed to timely publication of original, peer-reviewed ophthalmology and vision science articles.
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