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

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 resu

SUBMITTER: Marta A 

PROVIDER: S-EPMC11821859 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature