Novel CAPN5 mutation associated with bilateral retinal vasculopathy, peripheral non-perfusion, and a tractional retinal detachment in a 2-month-old girl
Our case adds to the previously identified CAPN5 mutations associated with NIV and expands upon the possible clinical phenotypes associated with mutations in this pleotropic gene.
Authors
- Jordan D. Deaner (ORCID: https://orcid.org/0000-0002-3899-4456)
- Lejla Vajzovic
Institutions
- Thomas Jefferson University (US)
- Visioncare Research (GB)
- Wills Eye Hospital (US)
Publication Details
- Journal
- Retinal Cases & Brief Reports
- Published
- 2026-02-03
- DOI
- https://doi.org/10.1097/icb.0000000000001876
- Primary Topic
- Calpain Protease Function and Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00