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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: 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
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Nature Portfolio 2024-09-01
Rangatū:Scientific Reports
Ngā marau:
Inherited retinal degenerations
Genetic testing
Ophthalmic genetics
Rare eye diseases
Epidemiology
Urunga tuihono:https://doi.org/10.1038/s41598-024-72589-4
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