Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

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‐syndr...

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Dades bibliogràfiques
Publicat a:Acta Ophthalmol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7754416/
https://ncbi.nlm.nih.gov/pubmed/32483926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/aos.14479
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