Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2025-02-12 DOI:10.1038/s41525-025-00475-7

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

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引用次数: 0

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.

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.