Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis

Hensman, J.; Hahn, L.C.; Schooneveld, M.J. van; Diederen, R.M.H.; Broeck, F. van den; Brink, J.B. ten; Thiadens, A.A.; Genderen, M.M. van; Born, L.I. van den; Leroy, B.P.; Hoyng, C.B.; Boon, C.J.F.

doi:doi:10.1111/aos.70036

Purpose X-linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD). Limited data exist on the optimal management of these complications. This retrospective cohort study evaluates clinical characteristics and outcomes of VH and RD in XLRS patients.Methods We included 49 patients diagnosed with XLRS who developed VH and/or RD. Collected data included demographics, best-corrected visual acuity (BCVA), retinal findings, treatment strategies and anatomical and functional outcomes.Results The median follow-up was 19.0 years (IQR 11.4-35.6) with 12 visits (IQR 6-19). Median age at first VH was 15.3 years (IQR 5.5-16.3) and 7.5 years (IQR 2.4-15.9) for RD. Peripheral retinoschisis was present in 94% of VH eyes and 80% of RD eyes. Of 39 patients with VH, 10 (26%) had bilateral VH;...Show morePurpose X-linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD). Limited data exist on the optimal management of these complications. This retrospective cohort study evaluates clinical characteristics and outcomes of VH and RD in XLRS patients.Methods We included 49 patients diagnosed with XLRS who developed VH and/or RD. Collected data included demographics, best-corrected visual acuity (BCVA), retinal findings, treatment strategies and anatomical and functional outcomes.Results The median follow-up was 19.0 years (IQR 11.4-35.6) with 12 visits (IQR 6-19). Median age at first VH was 15.3 years (IQR 5.5-16.3) and 7.5 years (IQR 2.4-15.9) for RD. Peripheral retinoschisis was present in 94% of VH eyes and 80% of RD eyes. Of 39 patients with VH, 10 (26%) had bilateral VH; only 1 (3%) presented with concurrent bilateral VH. VH resolved without intervention in 42 of 49 eyes (86%), although recurrence occurred in 22 eyes (45%). RD was observed in 25 eyes of 21 patients, with rhegmatogenous RD in 16 eyes (64%), tractional in 7 (28%) and exudative in 3 (12%), with one eye showing mixed features. Surgery was performed in 21 eyes (84%), achieving retinal reattachment in 43% after primary surgery and in 90% after multiple procedures. In 15 eyes operated on after 2005, final reattachment was achieved in 93%. BCVA improved postoperatively in 10 of 21 eyes (48%), was stable in 5 (24%) and declined in 2 (10%); 4 (19%) lacked follow-up BCVA.Conclusion VH in XLRS is often self-limiting with favourable functional and anatomical outcomes, but recurrence is common. RD typically requires surgical repair, often multiple procedures, with guarded visual prognosis despite anatomical reattachment. Regular follow-up, particularly in young XLRS patients with peripheral retinoschisis, is essential for early detection and management of these potential complications.Show less

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Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis