Choroidal neovascularisation secondary toX-linked retinoschisis.

IF 3.7 2区医学 Q1 OPHTHALMOLOGY

British Journal of Ophthalmology Pub Date : 2024-10-22 DOI:10.1136/bjo-2023-324165

Linyan Zhang, Xinyu Liu, Limei Sun, Xiaodi Zhou, Shuya Ke, Xiaoyan Ding

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引用次数: 0

Abstract

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.

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继发于 X 连锁视网膜裂孔症的脉络膜新生血管。

目的：关于X连锁视网膜裂孔症（XLRS）患者脉络膜新生血管（CNV）的文献很少。本研究旨在调查 XLRS 患者脉络膜新生血管的发病率和临床特征，并分析基因型与表型之间的初步相关性：方法：研究人员对经基因确诊的 XLRS 患者进行了回顾性病例系列研究。结果：129 名 XLRS 患者的 185 只眼睛中，有 129 只出现了 CNV：结果：在 129 名 XLRS 患者的 185 只眼睛中，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）（最小分辨角的对数）为 1.37±0.74。所有 CNV 均被归类为视网膜下和活动性 CNV。毛细血管周围 CNV 占 80.0%（12/15），而眼底 CNV 占 20.0%（3/15）。与非 CNV 眼相比，CNV 眼黄斑萎缩（5/15，33.3%，p=0.013）和黄斑周边裂孔（14/15，93.3%，p=0.000）的发生率更高。此外，与非 CNV 眼相比，CNV 眼的视网膜外层和 BCVA 的完整性较差（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名患者中有7名（70.0%，10只眼）被预测为存在错义变异，而10名患者中有3名（30.0%，5只眼）表现出严重变异：结论：XLRS眼球中CNV的发生率为8.1%。所有继发于 XLRS 的 CNV 都是活跃的，并被归类为 2 型。CNV眼的视觉功能较差，视网膜结构受损。抗血管内皮生长因子疗法对治疗XLRS-CNVs有效。基因型与表型之间没有明显的相关性。

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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来源期刊

British Journal of Ophthalmology 医学-眼科学

CiteScore

10.30

自引率

2.40%

发文量

213

审稿时长

3-6 weeks

期刊介绍： The British Journal of Ophthalmology (BJO) is an international peer-reviewed journal for ophthalmologists and visual science specialists. BJO publishes clinical investigations, clinical observations, and clinically relevant laboratory investigations related to ophthalmology. It also provides major reviews and also publishes manuscripts covering regional issues in a global context.