Aims Choroidal neovascularisation (CNV) in patients with X-linked retinoschisis (XLRS) has been poorly documented. This study aims to investigate the prevalence and clinical characteristics of CNV in patients with XLRS, as well as analyse the preliminary genotype–phenotype correlation. Methods A retrospective case series of patients with genetically confirmed XLRS was included. Demographic, clinical and genetic features were analysed, with a comparison between CNV and non-CNV eyes. Results Among 185 eyes of 129 patients with XLRS, the prevalence of CNV was 8.1% (15/185). The mean diagnostic age of all patients with CNV is 5.1±2.56 years. CNV eyes exhibited a mean best-corrected visual acuity (BCVA) (logarithm of the minimal angle of resolution) of 1.37±0.74. All CNVs were classified as subretinal and active. Peripapillary CNVs accounted for 80.0% (12/15), while subfoveal CNVs accounted for 20.0% (3/15). In CNV eyes, the prevalence of macular atrophy (5/15, 33.3%, p=0.013) and bullous peripheral schisis (14/15, 93.3%, p=0.000) was higher compared with non-CNV eyes. Additionally, CNV eyes exhibited poorer integrity of the outer retina and BCVA (p=0.007) compared with non-CNV eyes. All 15 eyes with CNV underwent anti-vascular endothelial growth factor (anti-VEGF) therapy. Genotype analysis revealed that 7 of 10 patients (70.0%, 10 eyes) were predicted to have missense variants, while 3 of 10 patients (30.0%, 5 eyes) exhibited severe variants. Conclusions The prevalence of CNV in XLRS eyes was found to be 8.1%. All CNVs secondary to XLRS were active and classified as type 2. CNV eyes demonstrated poorer visual function and compromised retinal structures. Anti-VEGF therapy demonstrated effectiveness in treating XLRS-CNVs. No significant genotype–phenotype correlation was established. All data relevant to the study are included in the article or uploaded as supplementary information.

中文翻译：

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继发于 X 连锁视网膜裂石症的脉络膜新生血管


目的 X 连锁视网膜裂音 （XLRS） 患者的脉络膜新生血管形成 （CNV） 记录很少。本研究旨在调查 XLRS 患者 CNV 的患病率和临床特征，并分析初步的基因型-表型相关性。方法 纳入基因确诊 XLRS 患者的回顾性病例系列。分析了人口统计学、临床和遗传特征，并比较了 CNV 和非 CNV 眼。结果 在 129 例 XLRS 患者的 185 只眼中，CNV 患病率为 8.1% （15/185）。所有 CNV 患者的平均诊断年龄为 5.1±2.56 岁。CNV 眼的平均最佳矫正视力 （BCVA） （最小分辨率角的对数） 为 1.37±0.74。所有 CNV 均分为视网膜下和活动性。周围 CNV 占 80.0% （12/15），而中心凹下 CNV 占 20.0% （3/15）。在 CNV 眼中，黄斑萎缩 （5/15， 33.3%，p=0.013） 和大疱性外周裂 （14/15， 93.3%，p=0.000） 的患病率高于非 CNV 眼。此外，与非 CNV 眼相比，CNV 眼表现出更差的外视网膜和 BCVA 完整性 （p=0.007）。所有 15 只患有 CNV 的眼睛都接受了抗血管内皮生长因子 （anti-VEGF） 治疗。基因型分析显示，10 例患者中有 7 例 （70.0%，10 只眼） 被预测为错义变异，而 10 例患者中有 3 例 （30.0%，5 只眼） 表现出严重的变异。结论 XLRS 眼中 CNV 的患病率为 8.1%。所有继发于 XLRS 的 CNV 均具有活性，并被归类为 2 型。CNV 眼表现出较差的视觉功能和受损的视网膜结构。抗 VEGF 疗法在治疗 XLRS-CNV 方面显示出有效性。 未建立显著的基因型 - 表型相关性。与研究相关的所有数据都包含在文章中或作为补充信息上传。