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

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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… Click to show full abstract

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.

Keywords: diagnosis inherited; genomic diagnosis; comprehensive genomic; diagnosis; retinal optical; inherited retinal

Journal Title: Acta Ophthalmologica
Year Published: 2020

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