A new genotype of the <i>IDH3A</i> gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood
This case reinforces the association between <i>IDH3A</i> mutations and <i>RP90</i>, corroborates key phenotypic features described in limited published reports-the presence of macular pseudocoloboma-and expands the mutational spectrum of the gene. Moreover, it highlights the role of mitochondrial metabolism in photoreceptor degeneration and proposes a link between them. Our findings underscore the need for functional studies to elucidate the pathogenic mechanisms underlying <i>IDH3A</i>-related retinopathies.
Authors
- Antonio Sierra‐Rivera (ORCID: https://orcid.org/0000-0001-7824-7239)
- Carmen Espinós (ORCID: https://orcid.org/0000-0003-4435-1809)
- Jordi Tortosa-Carreres (ORCID: https://orcid.org/0000-0002-4622-2173)
- Javier Montero-Hernández
- Raquel Rodríguez‐López (ORCID: https://orcid.org/0000-0001-5865-5382)
- Clara Monferrer-Adsuara (ORCID: https://orcid.org/0000-0003-0399-0903)
- Nuria Rosell-Saiz
Institutions
- Hospital Universitari i Politècnic La Fe (ES)
- Hospital General Universitario De Valencia (ES)
- Centro de Investigacion Principe Felipe (ES)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-09-24
- DOI
- https://doi.org/10.1080/13816810.2025.2563909
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00