Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Eva LenassiJill Clayton-SmithSofia DouzgouSimon C RamsdenStuart IngramGeorgina HallClaire L HardcastleTracy A FletcherRachel L TaylorJamie M EllingfordWilliam D NewmanCecilia FenertyVinod SharmaI Chris LloydSusmito BiswasJane L AshworthGraeme C BlackPanagiotis I Sergouniotis

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Genetic testing helped identify an etiological diagnosis in the majority of preschool children with IEDs. This prevented additional unnecessary testing and provided the opportunity for anticipatory guidance in significant subsets of patients.

Keyphrases

peritoneal dialysis
end stage renal disease
chronic kidney disease
ejection fraction
newly diagnosed
prognostic factors
patient reported outcomes
patient reported