Genotype–phenotype relationship in <i>RDH12</i> retinopathy: a perspective from a pediatric age group
This study includes a collection of genotypic and phenotypic data from children with RDH12-associated IRD. These findings will help further characterize RDH12-related retinopathy. Determining the time window of onset of dystrophic changes is critical to research the correct timing for administering possible therapies. More extensive and functional studies are needed in view of the opportunity of gene replacement therapy for RDH12 associated IRD.
Authors
- Elisa Marziali (ORCID: https://orcid.org/0000-0002-6676-9379)
- Pina Fortunato (ORCID: https://orcid.org/0009-0008-6321-1303)
- Sara Bargiacchi (ORCID: https://orcid.org/0000-0003-4271-0863)
- Roberto Caputo (ORCID: https://orcid.org/0000-0002-7797-5362)
- Elisabetta Pelo (ORCID: https://orcid.org/0000-0002-9712-6501)
- Rosangela Artuso (ORCID: https://orcid.org/0000-0001-9330-1360)
- Viviana Palazzo (ORCID: https://orcid.org/0000-0001-7800-8094)
- Elia Dirupo (ORCID: https://orcid.org/0000-0003-4060-6464)
- Caterina Gagliano (ORCID: https://orcid.org/0000-0001-8424-0068)
- Lucia Tiberi (ORCID: https://orcid.org/0000-0002-4365-0172)
- Fabiana D’Esposito (ORCID: https://orcid.org/0000-0002-7938-876X)
- Silvia Cestaro (ORCID: https://orcid.org/0000-0002-6038-4515)
- Giacomo Maria Bacci (ORCID: https://orcid.org/0000-0002-8741-4833)
- Andrea Sodi
- Ilaria Passerini
Institutions
- Università degli Studi di Enna Kore (IT)
- Imperial Valley College (US)
- Brescia University (US)
- Meyer Children's Hospital (IL)
- Meyer Children's Hospital (IT)
- Azienda Ospedaliero-Universitaria Careggi (IT)
- Imperial College London (GB)
- University of Naples Federico II (IT)
- University of Brescia (IT)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-03-05
- DOI
- https://doi.org/10.1080/13816810.2025.2470199
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00