Deep phenotyping of eyes shut homolog-associated retinopathy based on visual impairment patterns.

IF 0.9
Frontiers in ophthalmology Pub Date : 2025-09-08 eCollection Date: 2025-01-01 DOI:10.3389/fopht.2025.1672451
Daiki Sakai, Yasuhiko Hirami, Satoshi Yokota, Akishi Onishi, Masayo Takahashi, Makoto Nakamura, Yasuo Kurimoto, Akiko Maeda
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Abstract

Introduction: This study aimed to classify the phenotypes of eyes shut homolog (EYS)-associated retinopathy based on visual impairment patterns and investigate their characteristics.

Methods: This retrospective, single-center, cross-sectional study was conducted in 154 patients diagnosed with EYS-related retinopathy who underwent genetic testing between December 2017 and July 2023. Phenotyping was performed only in patients who underwent Goldmann perimetry (GP) and Humphrey visual field (HVF) 10-2 testing. Phenotypes were categorized as early, pericentral, typical, and advanced based on peripheral visual field preservation (GP: V-4e isopter extending beyond a 30-degree radius in ≥2 quadrants), central visual field impairment (HVF10-2: ≤20 points with 26 dB sensitivity), and macular impairment (logMAR ≥ 0.2). Genetic and ophthalmological characteristics were compared between the pericentral and typical types.

Results: A total of 39 eyes from 39 patients with EYS-associated retinopathy (average age: 48.2 ± 11.9 years, 21 women) were analyzed. Ten pathogenic variants were identified, with the three major variants (p.G843E, p.S1653fs, and p.Y2935X) accounting for a combined allele frequency of 83.3%. The phenotypes were classified as early (n=3), pericentral (n=18), typical (n=9), and advanced (n=9). No significant differences were observed between the pericentral and typical types in terms of the presence of major variants or biallelic null variants. Age and age at onset also did not differ significantly. However, macular impairment was significantly more frequent in the pericentral type (61.8%) than in the typical type (11.1%) (P = 0.014).

Discussion: In EYS-associated retinopathy, the pericentral type is considered a common phenotype, although its correlation with the genotype remains unclear. Despite preserved peripheral vision, careful monitoring is warranted due to the risk of macular impairment.

Abstract Image

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基于视觉损伤模式的闭眼同源性视网膜病变的深度表型分析。
本研究旨在基于视觉损害模式对闭眼同源性(eyes shut homolog, EYS)相关视网膜病变进行表型分类并探讨其特征。方法:这项回顾性、单中心、横断面研究对2017年12月至2023年7月期间接受基因检测的154例诊断为eys相关视网膜病变的患者进行了研究。表型分型仅在接受Goldmann视野(GP)和Humphrey视野(HVF) 10-2测试的患者中进行。根据周围视野保存(GP: V-4e等距镜在≥2个象限内延伸超过30度半径)、中央视野损害(HVF10-2:≤20点,26 dB灵敏度)和黄斑损害(logMAR≥0.2),表型分为早期、中心周围、典型和晚期。比较中心周围型和典型型的遗传学和眼科特征。结果:39例眼相关性视网膜病变患者共39只眼(平均年龄:48.2±11.9岁,女性21例)。共鉴定出10个致病变异,其中3个主要变异(p.G843E、p.S1653fs和p.Y2935X)占总等位基因频率的83.3%。表型分为早期(n=3)、中心周围(n=18)、典型(n=9)和晚期(n=9)。在主要变异或双等位基因零变异的存在方面,在中心周围型和典型型之间没有观察到显著差异。年龄和发病年龄也无显著差异。然而,中心周围型的黄斑损害发生率(61.8%)明显高于典型型(11.1%)(P = 0.014)。讨论:在眼相关性视网膜病变中,中心周围型被认为是一种常见的表型,尽管其与基因型的相关性尚不清楚。尽管保留了周边视力,但由于黄斑损伤的风险,需要仔细监测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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