Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5705384 | Ophthalmology | 2017 | 7 Pages |
Abstract
Multigene panel testing pointed to a molecular diagnosis in 84.7% of children with IRD. The diagnostic yield in the study population was significantly higher compared with that in previously reported unselected IRD cohorts. Approaches similar to the one described herein are expected to become a standard component of care in pediatric ophthalmology. We propose the introduction of genetic testing early in the diagnostic pathway in children with clinical and/or electrophysiologic findings, suggestive of IRD.
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Authors
Rachel L. PhD, Neil R.A. PhD, Stephanie J. BSc, Christopher BSc, Claire M. MSc, Jamie M. MRes, Georgina MSc, Claire BSc, Jiten MSc, BMBS, Elisabeth J. DBO, Lindsi C. DBO, Sofia PhD, MD, Jill MD(Res), FRCP, Simon C. PhD, FRCPath, Vinod FRCOphth,