Frequency and prevalence of macular OCT and fundus photography features in 33 male patients (66 eyes) with genetically confirmed X-linked retinoschisis (XLRS), evaluated at a tertiary pediatric retina clinic from 2013–2024, with attention to inter-eye asymmetry.
Cystoid spaces appeared in 100% of gradable eyes and macular schisis in 87.5%; inner nuclear and outer plexiform layers were most affected. Macular atrophy was found in 20.8% of eyes (unilateral in 8.3% of patients). On fundus photography, retinal folds were present in 57.9%, spoke-wheel patterns in 54.5%, vitreous veils in 10.5%, and chorioretinal atrophy in 5.3%. Intergrader agreement was excellent for macular schisis (κ=0.91) and moderate for spoke-wheel patterns.
Small single-center retrospective case series (n=33) limits generalizability. Grading was limited to gradable eyes, so true denominators may vary by feature. No visual acuity or genotype-phenotype correlation data were reported.
XLRS can present asymmetrically — unilateral macular atrophy or folds should still prompt genetic testing and further retinal evaluation. Systematic OCT grading, especially for cystoid spaces and macular schisis, improves phenotypic recognition even in atypical presentations.
