X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation
| Autor: | Logan M. Smith, Audina M. Berrocal, Craig A. McKeown, Jonathan F. Russell, Mustafa Tekin, Byron L. Lam, John Chiang, Linda A. Cernichiaro-Espinosa |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
genetic structures medicine.diagnostic_test business.industry Retinoschisis Fundus (eye) medicine.disease Fluorescein angiography eye diseases Ophthalmoscopy Ophthalmology Atrophy Optical coherence tomography Pediatrics Perinatology and Child Health medicine sense organs business Erg Genetics (clinical) Retinopathy |
| Zdroj: | Ophthalmic Genetics. 41:57-62 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.1080/13816810.2020.1723115 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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