Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach
A patient-centred, stepwise genomic approach significantly improved the molecular diagnosis of IRDs. This strategy supports the clinical utility of periodic WES reanalysis and targeted use of customised panels, WGS and functional assays. The proposed workflow is scalable and applicable to routine clinical practice, contributing to precision medicine in IRDs.
Authors
- Estefanía Cobos (ORCID: https://orcid.org/0000-0001-8343-1313)
- Luís Arias (ORCID: https://orcid.org/0000-0001-7041-5576)
- Anna Esteve-Garcia (ORCID: https://orcid.org/0000-0002-6005-2756)
- Jaume Català‐Mora (ORCID: https://orcid.org/0000-0003-2152-8579)
- Dèlia Yubero (ORCID: https://orcid.org/0000-0001-7742-0589)
- Zelia Corradi (ORCID: https://orcid.org/0000-0002-2934-497X)
- Cinthia Aguilera (ORCID: https://orcid.org/0000-0002-0363-8590)
- Frans P.M. Cremers (ORCID: https://orcid.org/0000-0002-4954-5592)
- Gema García‐García (ORCID: https://orcid.org/0000-0002-2113-0600)
- Ariadna Padró‐Miquel (ORCID: https://orcid.org/0000-0002-6488-447X)
- Pilar Barberán-Martínez (ORCID: https://orcid.org/0000-0002-3604-7068)
- Cristina Sau (ORCID: https://orcid.org/0009-0003-3687-1406)
- José M. Millán (ORCID: https://orcid.org/0000-0002-7211-9129)
- Ilyana Ismael
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- Radboud University Nijmegen (NL)
- Instituto de Salud Carlos III (ES)
- Bellvitge University Hospital (ES)
- Radboud University Medical Center (NL)
- Hospital Universitari i Politècnic La Fe (ES)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Agbar (Spain) (ES)
- Instituto de Investigación Sanitaria La Fe (ES)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Eye
- Published
- 2025-09-09
- DOI
- https://doi.org/10.1038/s41433-025-03981-1
- Citations
- 4
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.22
Funders
- International Retinal Research Foundation
- Centres de Recerca de Catalunya
- Generalitat de Catalunya
- Instituto de Salud Carlos III