Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry
This study aims to characterize the clinical spectrum and genetic landscape of IRDs in Portugal. Multicentre, cross-sectional, cohort study comprising consecutive patients with a clinical diagnosis of IRD and available genetic results, enroled in the IRD-PT registry (retina.com.pt). Among the 1369 patients enroled from 1125 families, the most frequently observed phenotype was non-syndromic retinitis pigmentosa (40.8%). A genetically confirmed diagnosis was achieved in 72.3% of families. Consanguinity was observed in one-fifth of cases, contributing to a higher frequency of homozygous variants within this cohort. Disease-causing genotypes were distributed across 136 different genes, with ABCA4 (13.0%), EYS (10.0%) and USH2A (6.9%) being the most frequently mutated genes. Overall, these results from a nationwide cohort significantly advance our understanding of the clinical and genetic spectrum of IRDs in Portugal, laying the groundwork for future studies to identify patients eligible for targeted therapies and to describe the natural history of these diseases.
Authors
- Maria João Menéres
- Maria Franca (ORCID: https://orcid.org/0000-0002-5562-9661)
- Claudio Lopes Soares (ORCID: https://orcid.org/0000-0002-2907-0091)
- João Heitor Marques (ORCID: https://orcid.org/0000-0001-6487-7950)
- José Costa (ORCID: https://orcid.org/0000-0002-6026-1929)
- João Melo Beirão (ORCID: https://orcid.org/0000-0001-8642-7010)
- Ana Marta (ORCID: https://orcid.org/0000-0003-3495-4649)
- Sara Vaz-Pereira (ORCID: https://orcid.org/0000-0001-6125-5486)
- Diogo Cabral (ORCID: https://orcid.org/0000-0003-1968-3561)
- João Pedro Marques (ORCID: https://orcid.org/0000-0002-1014-0483)
- Carolina Lemos (ORCID: https://orcid.org/0000-0001-9803-9584)
- Sérgio Estrela‐Silva (ORCID: https://orcid.org/0000-0002-7415-813X)
- Ana Luísa Carvalho (ORCID: https://orcid.org/0009-0004-0695-7206)
- Pedro Marques-Couto (ORCID: https://orcid.org/0009-0002-6964-646X)
Institutions
- University of Lisbon (PT)
- Universidade do Porto (PT)
- Hospitais da Universidade de Coimbra (PT)
- Centro de Genética Clínica (PT)
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
- Câmara Municipal de Almada (PT)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
- Unidade Hospitalar de Bragança (PT)
- University of Aveiro (PT)
- University of Coimbra (PT)
Publication Details
- Journal
- npj Genomic Medicine
- Published
- 2025-02-12
- DOI
- https://doi.org/10.1038/s41525-025-00475-7
- Citations
- 5
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 9.09