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

Marta DiñeiroRaquel CapínGuadalupe Á CifuentesBeatriz Fernández-VegaEva VillotaAndrea OteroAdrián SantiagoPatricia C PrunedaDavid CastilloMónica Viejo-DíazInés HernandoNoelia S DuránRebeca ÁlvarezClaudia G LagoGonzalo R OrdóñezÁlvaro Fernández-VegaRubén CabanillasJuan Cadiñanos

Published in: Acta ophthalmologica (2020)

Comprehensive genomic testing provided clinically relevant insights in a large proportion of blind patients, identifying potential therapeutic opportunities or previously undiagnosed syndromes in 42.2% of the genetically diagnosed cases (19/45).

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
copy number
peritoneal dialysis
high resolution
prognostic factors
gene expression
patient reported outcomes
patient reported