摘要目的:探讨先天性视网膜劈裂症（XLRS）患儿眼底异常血管表现的临床特点。方法:回顾性病例系列研究。对2017年12月至2024年11月就诊于首都医科大学附属北京同仁医院北京同仁眼科中心并确诊为XLRS的患儿（年龄≤18岁）的临床资料进行回顾性分析。所有患眼均行广角眼底照相，部分行荧光素眼底血管造影术（FFA）。对眼底异常血管的类型、占比及其与视力和并发症的关系进行研究。采用Fisher精确概率法、 χ2检验或Mann-Whitney U检验进行统计学分析。 结果:共纳入患儿112例（218只眼），其中右眼110只，左眼108只。患儿全部为男性，年龄5.00（4.00，6.75）岁（范围：9个月至17岁）。139只眼（63.8%）眼底照相存在异常血管表现，其中78只眼（35.8%）存在血管白鞘，71只眼（32.6%）存在血管迂曲，64只眼（29.4%）存在桥样血管，20只眼（9.2%）存在渗出改变，7只眼（3.2%）可见视网膜新生血管。44例（85只眼）行FFA检查的患儿中，82只眼（96.5%）存在至少1种造影异常表现，82只眼（96.5%）可见无灌注区域，80只眼（94.1%）存在不同程度的黄斑区外荧光渗漏，13只眼（15.3%）可见视网膜新生血管；67只眼（78.8%）在周边视网膜劈裂及非劈裂区域均有异常血管表现，15只眼（17.6%）的异常血管表现仅出现在周边视网膜劈裂区域内，1只仅黄斑劈裂的患眼（1.2%）周边非劈裂区也可见异常血管表现。1例患儿（1只眼）因大量视网膜下渗出导致渗出性视网膜脱离，接受了抗血管内皮生长因子治疗后渗出吸收，视网膜脱离复位。与不存在异常血管表现的患眼相比，存在异常血管表现的患眼发生周边视网膜劈裂（100%比58.2%）、玻璃体积血（33.1%比7.6%）、视网膜脱离（24.5%比6.3%）、牵拉性视网膜脱离（20.1%比2.5%）的比例更高（均 P<0.05）。与不存在以下表现的患眼相比，存在周边视网膜劈裂［0.96（0.70，1.30）比0.52（0.46，0.75）］、玻璃体积血［1.00（0.70，1.30）比0.70（0.52，1.00）］、视网膜脱离［1.30（1.00，1.92）比0.70（0.52，1.00）］、异常血管表现［1.00（0.70，1.30）比0.70（0.52，0.98）］、血管白鞘［1.00（0.70，1.30）比0.70（0.52，1.00）］、血管迂曲［1.00（0.70，1.30）比0.70（0.52，1.00）］的患眼视力更差（均 P<0.05）。 结论:XLRS患儿眼底可有多种异常血管表现，血管白鞘、血管迂曲、桥样血管最为常见；有异常血管表现的患眼并发症比例更高、视力更差。

abstractsObjective:To investigate the clinical characteristics of abnormal vascular changes in the fundus of pediatric patients with congenital X-linked retinoschisis (XLRS).Methods:This retrospective case series study included pediatric patients (age≤18 years) diagnosed with XLRS at Beijing Tongren Hospital, Capital Medical University between December 2017 and November 2024. All eyes underwent wide-angle fundus photography with some patients additionally receiving fundus fluorescein angiography (FFA). The prevalence and patterns of vascular abnormalities were analyzed, along with their correlations with clinical outcomes. Statistical analyses employed Fisher′s exact test, χ2 test, or Mann-Whitney U test. Results:A total of 112 pediatric cases (218 eyes) were included, consisting of 110 right eyes and 108 left eyes. All patients were male, with a median age of 5.00 (4.00, 6.75) years (range: 9 months to 17 years). Abnormal vascular changes were detected in 139 eyes (63.8%) on fundus photography, including vascular sheathing (35.8%, 78/218), tortuosity (32.6%, 71/218), bridging vessels (29.4%, 64/218), exudation (9.2%, 20/218), and neovascularization (3.2%, 7/218). Among 85 FFA-evaluated eyes (44 patients), 96.5% (82/85) exhibited abnormalities, including nonperfusion areas (96.5%, 82/85), extra-macular leakage (94.1%, 80/85), and neovascularization (15.3%, 13/85). Vascular anomalies were observed in both schitic and non-schitic peripheral retina in 78.8% (67/85) of eyes, exclusively in schitic areas in 17.6% (15/85), and in non-schitic regions in 1.2% (1/85). One eye with exudative retinal detachment secondary to massive subretinal exudation achieved complete resolution following anti-VEGF therapy. Eyes with abnormal vascular changes demonstrated significantly higher rates of peripheral retinoschisis (100% vs. 58.2%), vitreous hemorrhage (33.1% vs. 7.6%), retinal detachment (24.5% vs. 6.3%) and tractional retinal detachment (20.1% vs. 2.5%) compared to unaffected eyes (all P<0.05). Worse median visual acuity was observed in eyes with peripheral retinoschisis [0.96 (0.70, 1.30) vs. 0.52 (0.46, 0.75)], vitreous hemorrhage [1.00 (0.70, 1.30) vs. 0.70 (0.52, 1.00)], retinal detachment [1.30 (1.00, 1.92) vs. 0.70 (0.52, 1.00)], abnormal vascular changes [1.00 (0.70, 1.30) vs. 0.70(0.52, 0.98)], vascular sheathing [1.00(0.70, 1.30) vs. 0.70(0.52, 1.00)], tortuous vessels [1.00 (0.70, 1.30) vs. 0.70 (0.52, 1.00)] compared to unaffected eyes (all P<0.05). Conclusions:Pediatric XLRS patients exhibit diverse fundus vascular abnormalities, predominantly vascular sheathing, tortuosity, and bridging vessels. Eyes with vascular abnormalities demonstrate significantly higher complication rates and worse visual acuity.