Background/aims Vitreous haemorrhage (VH) and retinal detachment (RD) cause a precipitous decline in vision in a subset of patients with X-linked retinoschisis (XLRS), an otherwise a slowly progressive condition. This study aims to report the frequency of macular and peripheral retinal findings in a large cohort of patients with XLRS and to determine whether peripheral retinal findings are associated with VH and RD.
Methods A retrospective observational case series was performed in 65 patients with XLRS with a pathogenic variant in retinoschisin 1. Chart review included examination notes, fundus photographs and optical coherence tomography (OCT). Fisher exact tests and univariable logistic regression analysis were used to determine the association between peripheral retinal findings (including retinoschisis, metallic sheen, vascular sheathing, pigmentary changes, white spiculations and vitreous veils) and complications (including VH and RD).
Results Seven eyes (8%) showed normal macular structure on OCT. Peripheral retinoschisis was significantly associated with both VH and RD. Out of 10 eyes with complications, 9 (90%) had peripheral retinoschisis, compared with 33 out of 116 eyes (28%) without complications (p=0.0014). In addition, each additional peripheral finding increased the odds of RD by a factor of 4.06 (95% CI 1.58 to 10.39, p=0.028). There were no complications in the 28 eyes with a normal periphery (p=0.84) or in the 35 eyes with metallic sheen (p=0.42).
Conclusion The data suggest that patients with peripheral retinoschisis are at increased risk for VH and RD. Furthermore, patients with additional peripheral retinal findings together with peripheral schisis may carry additional risk for RD.
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Contributors ATF participated in study design, data collection, manuscript preparation and editing.
NA participated in data collection and manuscript editing.
TB participated in statistical analysis and manuscript editing.
MM participated in study design, data collection and manuscript editing.
Funding This work was supported by Moorfields Eye Hospital Special Trustees (grant number ST 1310F), Moorfields Eye Charity (grant number MEC 13 10 A) and the Foundation Fighting Blindness (grant number CD-CL-0711–0518-UCL)
Competing interests ATF owns stock in Ionis Pharmaceuticals (Carlsbad, CA). MM consults for Meira GTx (London, UK), Ora Inc (Andover, MA), Shire (Hampshire, UK) and Editas (Cambridge, MA). NA and TB have no financial disclosures.
Ethics approval Moorfields Eye Hospital.
Provenance and peer review Not commissioned; externally peer reviewed.