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X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation.
- Source :
-
Ophthalmic Genetics . Feb2020, Vol. 41 Issue 1, p57-62. 6p. - Publication Year :
- 2020
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 13816810
- Volume :
- 41
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Ophthalmic Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 142399893
- Full Text :
- https://doi.org/10.1080/13816810.2020.1723115