EARLY FINDINGS FROM A NATURAL HISTORY STUDY OF PATIENTS WITH THE PATHOGENIC p.Gly208Asp PRPH2 VARIANT ASSOCIATED WITH RETINAL DYSTROPHY
This study highlights an association with the CACD phenotype in patients carrying the p.Gly208Asp PRPH2 variant. Multimodal imaging identified short-term markers of progression that may be useful for disease monitoring and potential future clinical trials.
Authors
- Shyamanga Borooah (ORCID: https://orcid.org/0000-0003-2970-045X)
- Naomi E. Wagner (ORCID: https://orcid.org/0000-0002-5470-2652)
- Fritz Gerald P. Kalaw (ORCID: https://orcid.org/0000-0002-3940-2272)
- Evan Walker (ORCID: https://orcid.org/0000-0001-8566-0371)
- Shadi M. AlAshwal (ORCID: https://orcid.org/0000-0001-9198-4604)
- Melanie Tran
- Shaden H. Yassin (ORCID: https://orcid.org/0000-0003-3156-4573)
- Rasha Nabil Kako
- Jesse Most (ORCID: https://orcid.org/0000-0002-2582-4503)
- Ines Doris Nagel (ORCID: https://orcid.org/0000-0002-4649-6764)
Institutions
- University of California San Diego (US)
- The California Eye Institute (US)
- Jacobs (United States) (US)
Publication Details
- Journal
- Retina
- Published
- 2025-11-10
- DOI
- https://doi.org/10.1097/iae.0000000000004712
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00