Genotype-Phenotype Correlations in <i>ABCA4</i> -Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients
The severity of ABCA4 variants correlate with the extent of retinal phenotype, emphasizing the importance of early molecular diagnosis. These findings support the refinement of variant classification and highlight the need for further studies to better understand the implications for clinical management and potential therapeutic strategies.
Authors
- Juan Francisco Santamaria
- Anna Esteve-Garcia (ORCID: https://orcid.org/0000-0002-6005-2756)
- Dèlia Yubero (ORCID: https://orcid.org/0000-0001-7742-0589)
- Laura Distéfano (ORCID: https://orcid.org/0000-0003-2319-1324)
- Zelia Corradi (ORCID: https://orcid.org/0000-0002-2934-497X)
- Cinthia Aguilera (ORCID: https://orcid.org/0000-0002-0363-8590)
- Sara Jordan-Cumplido
- Pilar Barberán-Martínez (ORCID: https://orcid.org/0000-0002-3604-7068)
- Cristina Sau (ORCID: https://orcid.org/0009-0003-3687-1406)
- Lluís Arias
- María Antolín-Maté
- Ricardo P. Casaroli-Marano
- Gema García-García
- José M. Millán
- Jaume Català-Mora
- Josep Maria Caminal
- Estefania Cobos
- Socorro Alforja
- Frans P. M. Cremers
Institutions
- Universitat Autònoma de Barcelona (ES)
- 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)
- Biogipuzkoa Health Research Institute (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Clínic de Barcelona (ES)
- Agbar (Spain) (ES)
- Hospital de Sabadell (ES)
- Consorci Sanitari Garraf (ES)
- Instituto de Investigación Sanitaria La Fe (ES)
- Barcelona Macula Foundation (ES)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2026-02-05
- DOI
- https://doi.org/10.1167/iovs.67.2.19
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Centres de Recerca de Catalunya
- Retina UK
- European Commission
- Generalitat de Catalunya
- Generalitat Valenciana
- Stichting Blindenhulp
- Stichting tot Verbetering van het Lot der Blinden
- Xarxa de Bancs de Tumors de Catalunya
- Instituto de Salud Carlos III