A novel <i>TSPAN12</i> mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy
This report highlights a novel TPSAN12 pathogenic variant causing atypical FEVR which manifests with a retinitis pigmentosa phenotype.
Authors
- Jonathan E. Sears (ORCID: https://orcid.org/0000-0002-7007-6938)
- Alison Zhao (ORCID: https://orcid.org/0000-0002-5479-2686)
- Elias I. Traboulsi (ORCID: https://orcid.org/0000-0001-8870-7673)
- Meghan J. DeBenedictis (ORCID: https://orcid.org/0000-0002-6645-4553)
- Joseph R. Abraham (ORCID: https://orcid.org/0000-0001-5473-9060)
Institutions
- Cleveland Clinic (US)
- Cleveland Clinic Lerner College of Medicine (US)
- Cleveland Eye Clinic (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1080/13816810.2025.2560624
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00