Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration
WDR19-mediated retinal degeneration is heterogenous in presentation, and in some cases can phenocopy STGD. The foveal sparing phenotype was apparent in three of four patients with relatively preserved visual acuity, which may serve as a retinal prognostic factor in patients with pathogenic variants in WDR19. All six variants evaluated are correctable by prime editing, establishing a foundation for future research in therapeutic development.
Authors
- Peter M. J. Quinn (ORCID: https://orcid.org/0000-0001-9940-4264)
- Stephen H. Tsang (ORCID: https://orcid.org/0000-0001-9082-2427)
- Man‐Shan Kong (ORCID: https://orcid.org/0000-0002-9092-4906)
- Ashley Zhou (ORCID: https://orcid.org/0000-0002-3678-1166)
- Janet R. Sparrow (ORCID: https://orcid.org/0000-0001-7448-5950)
- Bruna Lopes da Costa (ORCID: https://orcid.org/0000-0002-6513-0717)
- Marilyn Rodriguez
- Jorge Pincay
Institutions
- State University of New York (US)
- NewYork–Presbyterian Hospital (US)
- SUNY Downstate Health Sciences University (US)
- Columbia University Irving Medical Center (US)
- Columbia University (US)
Publication Details
- Journal
- Documenta Ophthalmologica
- Published
- 2025-04-04
- DOI
- https://doi.org/10.1007/s10633-025-10016-3
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Research to Prevent Blindness
- New York Eye and Ear Infirmary of Mount Sinai
- Curing Retinal Blindness Foundation
- National Institutes of Health