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.

中文翻译：

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无黄斑累及的X连锁性周围视网膜分裂症：RS1基因证实的病例系列。

背景：少年X连锁视网膜分裂症（JXLRS）是一种遗传性视网膜病变，通常伴有黄斑部视网膜分裂症。在这项研究中，我们描述了一群没有黄斑裂孔性周围性视网膜分裂症的患者。材料与方法：回顾性研究了3例经基因证实的RS1基因型的JXLRS患者。通过光学相干断层扫描（OCT），宽视野荧光素血管造影，临床检眼镜和彩色眼底照相检查评估存在黄斑和/或周围视网膜分裂症。结果：3例JXLRS周围性视网膜分裂症患者的眼睛没有黄斑分裂或萎缩。在OCT上。一名患者可使用ERG，但在暗视组合杆-锥反应中b波没有减少。RS1突变可引起保留黄斑的JXLRS表型。即使没有黄斑性分裂症的证据，也应考虑对患有周围性视网膜分裂症的年轻男性进行JXLRS的诊断。