Aim: To evaluate macular anatomy in patients with X linked retinoschisis (XLRS) using spectral-domain optical coherence tomography (SD-OCT).
Methods: Consecutive observational case series. Clinical features were obtained through retrospective chart review. Only eyes without prior surgical interventions and those scanned with SD-OCT were included. The OCT images were analysed.
Results: Fourteen eyes of seven males with XLRS scanned with SD-OCT, age 5 to 45 years, were identified. On clinical examination, stellate spoke-like cystic maculopathy was present in nine eyes, and an atrophic foveal lesion in five eyes. SD-OCT revealed cystoid spaces accounting for retinal splitting in the inner nuclear layer in 12 eyes, and outer plexiform layer in two eyes of one patient. A few small cysts, not accounting for the foveal splitting, were seen in the outer nuclear layer in four eyes and in the ganglion cell layer and/or nerve fibre layer in six eyes.
Conclusions: SD-OCT localised the foveomacular retinoschisis in XLRS to the retinal layers deeper than the nerve fibre layer. In the present study, the foveomacular schisis was seen most frequently in the inner nuclear layer.
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Funding: Supported in part by a National Institutes of Health Center Grant (P30 EY014801) and an unrestricted grant from Research to Prevent Blindness.
Ethics approval: Ethics approval was provided by the Institutional Review Board at the University of Miami Miller School of Medicine.