Retinal Folds as a Clinical Feature of X-Linked Retinoschisis: A Series of Three Cases.

BACKGROUND AND OBJECTIVE

The most common clinical features of X-linked retinoschisis (XLRS) include macular schisis in a spoke wheel pattern and peripheral schisis, though other findings such as vitreous veils, vascular attenuation, and subretinal fibrosis have been described. This is the first report to describe retinal folds as a characteristic feature in patients with XLRS.

PATIENTS AND METHODS

This was a case series of patients presenting to the retina service at Bascom Palmer Eye Institute with genetically confirmed XLRS. Patients included in this report underwent examination under anesthesia with multimodality imaging.

RESULTS

Three patients with XLRS were found to have retinal folds, including a newly characterized "retinal scroll" seen on examination and multimodality imaging.

CONCLUSIONS

The presence of a retinal fold should yield a differential diagnosis that includes XLRS in the correct clinical context. Panel-based genetic testing and multimodal imaging are useful in guiding clinical management. .