Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids
Our study is the first to describe an <i>RDH12</i>-AD disease model with pathology at later stages of photoreceptor differentiation, in keeping with the milder disease course seen in humans. It provides insights into the etiology and possible targets for future therapeutic development.
Authors
- Pablo Soro-Barrio (ORCID: https://orcid.org/0000-0003-4509-6109)
- Neelima Nair
- Lyes Toualbi (ORCID: https://orcid.org/0000-0002-7973-8301)
- Hajrah Sarkar
- Cécile Méjécase (ORCID: https://orcid.org/0000-0003-2532-4004)
- Nicholas Owen (ORCID: https://orcid.org/0000-0001-5598-6274)
- Riccardo Cheloni (ORCID: https://orcid.org/0000-0002-6871-9498)
- Mariya Moosajee (ORCID: https://orcid.org/0000-0003-1688-5360)
- Ya Zhou (ORCID: https://orcid.org/0000-0003-2943-9220)
Institutions
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- The Francis Crick Institute (GB)
- Moorfields Eye Hospital (GB)
- Genomics (United Kingdom) (GB)
- University College London (GB)
Publication Details
- Journal
- Frontiers in Cell and Developmental Biology
- Published
- 2025-04-29
- DOI
- https://doi.org/10.3389/fcell.2025.1511066
- Citations
- 2
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Wellcome Trust
- Retina UK
- Moorfields Eye Charity