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.
Original language | English (US) |
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Pages (from-to) | 57-62 |
Number of pages | 6 |
Journal | Ophthalmic Genetics |
Volume | 41 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2 2020 |
Keywords
- Retinoschisis
- case series
- novel mutation
- peripheral retinoschisis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Ophthalmology
- Genetics(clinical)