Abstract
PURPOSE: To evaluate the demographic and clinical characteristics, treatment indications, long-term outcomes and prognostic factors in patients with congenital x-linked retinoschisis (CXLR) managed conservatively or surgically. METHODS: This retrospective, international, multicentre study included data from retina specialists across 14 centres in 9 countries. Demographic information, best corrected visual acuity (BCVA), phenotype, optical coherence tomography (OCT) findings and disease management were analysed. Surgical indications, techniques and anatomical and visual outcomes were evaluated. RESULTS: A total of 635 eyes of 318 patients were included. Median age at presentation was 9 years (range: 0-81). Observation was preferred in 73.5% of eyes, laser photocoagulation (LPC) in 9.3% and vitreoretinal surgery in 18.1%. Surgical patients presented younger (7 vs. 10 years; p = 0.002) and with worse baseline BCVA (1.50 vs. 0.50 LogMAR; p < 0.0001). Disease symmetry was lower in surgical cases (24.4%) than in conservative and LPC groups (p < 0.0001). Vitreous veils, peripheral pigmentary changes and white spiculations were predictive of surgical need, particularly in eyes with rhegmatogenous retinal detachment (RRD) and vitreous haemorrhage (VH). OCT predictors of peripheral progression included absence of ganglion cell layer cysts and presence of outer plexiform layer cysts. Single-surgery anatomical success was 68.7%, increasing to 94.7% with additional procedures. Inner-wall retinectomy significantly improved outcomes in macula-threatening retinoschisis (p = 0.026). Visual acuity improved significantly after surgery in RRD and VH cases (p = 0.003). CONCLUSION: CXLR shows a broad clinical spectrum requiring individualized care. Fundus and OCT features effectively predicted progression and surgical need. Surgical management achieved high success, with inner-wall retinectomy beneficial in certain cases.