Article
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Acta ophthalmologica - 1 Dec 2020
Diñeiro Marta, Capín Raquel, Cifuentes Guadalupe Á, Fernández-Vega Beatriz, Villota Eva, Otero Andrea, Santiago Adrián, Pruneda Patricia C, Castillo David, Viejo-Díaz Mónica, Hernando Inés, Durán Noelia S, Álvarez Rebeca, Lago Claudia G, Ordóñez Gonzalo R, Fernández-Vega Álvaro, Cabanillas Rubén, Cadiñanos Juan
Abstract excerpt
PURPOSE: In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clinical management. METHODS: We studied 100 non-syndromic and syndromic Spanish patients with a clinical diagnosis of blindness caused by alterations on the retina,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.