Journal article
X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation
Ophthalmic genetics, Vol.41(1), pp.57-62
01/02/2020
DOI: 10.1080/13816810.2020.1723115
PMID: 32124668
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.
Details
- Title: Subtitle
- X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation
- Creators
- Logan M Smith - Bascom Palmer Eye InstituteLinda A Cernichiaro-Espinosa - Bascom Palmer Eye Institute, Miller School of MedicineCraig A McKeown - Bascom Palmer Eye InstituteMustafa Tekin - Bascom Palmer Eye InstituteByron L Lam - Bascom Palmer Eye InstituteJohn Chiang - Molecular Vision Laboratory, Portland, Oregon, USA.Jonathan F Russell - Bascom Palmer Eye InstituteAudina M Berrocal - Bascom Palmer Eye Institute
- Resource Type
- Journal article
- Publication Details
- Ophthalmic genetics, Vol.41(1), pp.57-62
- Publisher
- Taylor & Francis
- DOI
- 10.1080/13816810.2020.1723115
- PMID
- 32124668
- ISSN
- 1381-6810
- eISSN
- 1744-5094
- Language
- English
- Date published
- 01/02/2020
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9984187025502771
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