Clinical and Imaging Characteristics of <i>PRPH2</i> Retinopathies in a Longitudinal Cohort and Diagnostic Implications
Individuals with the L185P variant had less severe disease with clinical manifestation typical of PD and better VA. More advanced disease with CACD and worse VA were associated with the c.828+3A>T variant. Results contribute to knowledge about genotypic-phenotypic associations of PRPH2 retinopathies and inform clinical and therapeutic end points.
Authors
- Daniela Ferrara (ORCID: https://orcid.org/0000-0002-1380-7562)
- Dikha De
- Johanna M. Seddon (ORCID: https://orcid.org/0000-0002-2494-7552)
- Laura Grunenkovaite
Institutions
- Tufts University (US)
- University of Massachusetts Chan Medical School (US)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2024-12-18
- DOI
- https://doi.org/10.1167/iovs.65.14.31
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health