Zhou Lin, Boboev Farrukhjon, Chen Hui, Jiang Fanwen, Zhang Chun, Xiao Jing, Jiang Hui, Liao Yongchuan, Xu Zhuping
Department of ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
Front Genet. 2025 Apr 9;16:1485874. doi: 10.3389/fgene.2025.1485874. eCollection 2025.
Our previous research identified pathogenic variants in RetNet genes in 23.4% of individuals with early-onset high myopia. This study aims to analyze the genetic defects in patients with high myopia complicated by rhegmatogenous retinal detachment.
Whole-exome sequencing was performed on 40 patients with high myopia accompanied by retinal detachment. Variants were filtered from 281 RetNet genes, 178 genes related to syndromic high myopia, 23 non-syndromic high myopia-associated genes, and 29 rhegmatogenous retinal detachment-related genes using a multistep bioinformatics approach. Clinical data were collected for genotype-phenotype correlation analysis.
Pathogenic variants were detected in 47.5% (19/40) in patients with high myopia accompanied by retinal detachment, specifically in RetNet genes (18/40), rhegmatogenous retinal detachment-related genes (11/40), and syndromic high myopia associated genes (10/40). No variants were found in non-syndromic genes. The most prevalent pathogenic genes for high myopia with retinal detachment were Stickler-related genes, including (10.0%, 4/40) and (5.0%, 2/40). Patients with Stickler-related gene variants presented the youngest average age of retinal detachment onset (35.17 ± 18.03 years) and shortest axial length (27.63 ± 1.01 mm).
RetNet genes are the predominant causative genes (18/40, 45.0%) in patients with high myopia and retinal detachment. The findings affirm that Stickler syndrome (15%) is a significant etiological factor for high myopia accompanied by retinal detachment. We recommend enhanced comprehensive systemic and ophthalmic examinations for patients with high myopia to enable early detection and prevention of retinal detachment.
我们之前的研究在23.4%的早发性高度近视个体中发现了视网膜网络（RetNet）基因的致病变异。本研究旨在分析高度近视合并孔源性视网膜脱离患者的基因缺陷。
对40例高度近视合并视网膜脱离患者进行全外显子测序。使用多步骤生物信息学方法，从281个RetNet基因、178个与综合征性高度近视相关的基因、23个非综合征性高度近视相关基因和29个孔源性视网膜脱离相关基因中筛选变异。收集临床数据进行基因型-表型相关性分析。
在高度近视合并视网膜脱离的患者中，47.5%（19/40）检测到致病变异，具体为RetNet基因（18/40）、孔源性视网膜脱离相关基因（11/40）和综合征性高度近视相关基因（10/40）。在非综合征性基因中未发现变异。高度近视合并视网膜脱离最常见的致病基因是与Stickler综合征相关的基因，包括[具体基因1]（10.0%，4/40）和[具体基因2]（5.0%，2/40）。携带与Stickler综合征相关基因变异的患者视网膜脱离发病的平均年龄最小（35.17±18.03岁），眼轴最短（27.63±1.01毫米）。
RetNet基因是高度近视合并视网膜脱离患者的主要致病基因（18/40，45.0%）。研究结果证实，Stickler综合征（15%）是高度近视合并视网膜脱离的重要病因。我们建议对高度近视患者加强全面的全身和眼科检查，以便早期发现和预防视网膜脱离。
