Current management of inherited retinal degenerations in Portugal (IRD-PT survey)

Abstract Inherited retinal dystrophies/degenerations (IRDs) are the leading cause of visual impairment and incurable familial blindness in the Western world. Given the clinical and genetic heterogeneity, establishing a molecular diagnosis is especially relevant. The aim of this study was to perform...

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Bibliographic Details

Published in:	Scientific Reports
Main Authors:	João Pedro Marques, Nuno Ferreira, Natacha Moreno, Ana Marta, Sara Vaz-Pereira, Sérgio Estrela-Silva, José Costa, Ana Rocha Cardoso, Pedro Neves, Lilianne Duarte, Dália Meira, Joana Pires, Carlos Menezes, Filipa Rodrigues, Pedro Arede, André Coutinho, Diogo Cabral, Inês Coutinho, Miguel Ribeiro, Marta Macedo, Sérgio Brito, Filipe Isidro, Filipa Gomes Rodrigues, João Paulo Castro Sousa, Marco Marques, Raquel Martins, Eduardo Silva
Format:	Article
Language:	English
Published:	Nature Portfolio 2024-09-01
Subjects:	Inherited retinal degenerations Genetic testing Ophthalmic genetics Rare eye diseases Epidemiology
Online Access:	https://doi.org/10.1038/s41598-024-72589-4