Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J.
Diñeiro M, et al.
Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. doi: 10.1111/aos.14479. Epub 2020 Jun 1.
Acta Ophthalmol. 2020.
PMID: 32483926
Free PMC article.
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. ...
PURPOSE: In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of c …