Disparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the <i>RS1</i> gene
Family members with the same pathogenic variant and of the same age can present with significantly different XLRS phenotypes. This highlights the importance of other factors, such as genetic modifiers, epigenetic regulatory events, and environmental influences, in contributing to phenotypic heterogeneity in XLRS patients.
Authors
- Petèr Király (ORCID: https://orcid.org/0000-0002-7980-4401)
- Felix F. Reichel (ORCID: https://orcid.org/0000-0001-9325-5616)
- Sian Sperring
- M. Dominik Fischer (ORCID: https://orcid.org/0000-0002-0690-6538)
Institutions
- Nuffield Orthopaedic Centre (GB)
- University of Oxford (GB)
- Oxford University Hospitals NHS Trust (GB)
- University of Tübingen (DE)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-03-16
- DOI
- https://doi.org/10.1080/13816810.2025.2479522
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute for Health and Care Research