[Clinical characteristics of the vascular changes in pediatric patients with congenital retinoschisis].

Objective

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.