Macular Features in X-Linked Retinoschisis Patients.

OBJECTIVE

To describe the frequency and prevalence of macular features in X-linked retinoschisis (XLRS) patients using optical coherence tomography (OCT) and fundus photography, with attention to inter-eye asymmetry.

DESIGN

Retrospective consecutive case series.

SUBJECTS: Thirty-three male patients (66 eyes) with genetically confirmed XLRS evaluated at a tertiary pediatric retina clinic between 2013 and 2024.

METHODS

Fundus photography and macular OCT images were graded independently by 2 masked reviewers for macular schisis, cystoid spaces (with layer localization), macular atrophy, spoke-wheel patterns, retinal folds, vitreous veils, and chorioretinal atrophy. Intergrader reliability was assessed using percent agreement and Cohen's kappa.

MAIN OUTCOME MEASURES: Frequency and prevalence of OCT and fundus photography features, including unilateral versus bilateral involvement.

RESULTS

Cystoid spaces were present in 100% of gradable eyes and macular schisis in 87.5%. Cystoid changes most frequently involved the inner nuclear and outer plexiform layers. Macular atrophy was identified in 20.8% of eyes, with unilateral involvement in 8.3% of assessable patients. On fundus photography, retinal folds were present in 57.9% of eyes, spoke-wheel patterns in 54.5%, vitreous veils in 10.5%, and chorioretinal atrophy in 5.3%. Unilateral manifestations were observed across multiple imaging features. Intergrader agreement was excellent for macular schisis (κ = 0.91) and moderate for spoke-wheel patterns.

CONCLUSIONS

Macular abnormalities in XLRS demonstrate phenotypic and interpretative variability, including clinically relevant unilateral findings. Systematic characterization of OCT and fundus features may improve phenotypic recognition of asymmetric disease and may help identify patients who warrant genetic testing or further retinal evaluation.