Bibliographic Details
| Title: |
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry |
| Authors: |
Ana Marta, Pedro Marques-Couto, Sara Vaz-Pereira, José Costa, Diogo Cabral, Sérgio Estrela-Silva, Maria Franca, João Heitor Marques, Maria João Menéres, Carolina Lemos, João Melo Beirão, Célia Azevedo Soares, Ana Luísa Carvalho, João Pedro Marques |
| Source: |
npj Genomic Medicine, Vol 10, Iss 1, Pp 1-11 (2025) |
| Publisher Information: |
Nature Portfolio, 2025. |
| Publication Year: |
2025 |
| Collection: |
LCC:Medicine
LCC:Genetics |
| Subject Terms: |
Medicine, Genetics, QH426-470 |
| More Details: |
Abstract 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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2056-7944 |
| Relation: |
https://doaj.org/toc/2056-7944 |
| DOI: |
10.1038/s41525-025-00475-7 |
| Access URL: |
https://doaj.org/article/8e07c873ceb1477187cbdd8c4ac16583 |
| Accession Number: |
edsdoj.8e07c873ceb1477187cbdd8c4ac16583 |
| Database: |
Directory of Open Access Journals |
