X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation

Abstract

ABSTRACT Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary retinopathy that commonly presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis with no macular schisis. Materials and Methods: A retrospective case series of three JXLRS patients with genetically confirmed RS1 genotypes was identified. Presence of macular and/or peripheral retinoschisis as assessed by optical coherence tomography (OCT), wide-field fluorescein angiography, clinical ophthalmoscopy, and color fundus photography. Results: The eyes of the three JXLRS patients with peripheral retinoschisis had no macular schisis or atrophy on OCT. ERG was available in one patient and showed no reduced b-waves on scotopic combined rod-cone response. Conclusions: RS1 mutations can cause a macular-sparing JXLRS phenotype. The diagnosis of JXLRS should be considered for young males presenting with peripheral retinoschisis even if there is no evidence of macular schisis.