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Genetic testing may give molecular diagnoses in pediatric inherited retinal disease cases
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In a retrospective case series, a majority of children with inherited retinal disease who underwent genetic testing were found to have a probable or possible molecular diagnosis.
Eighty-five children with a diagnosis of isolated or syndromic inherited retinal disease were included in the single-center retrospective case series. The children had no familial relationship with each other.
After undergoing multigene panel testing, 67 patients (78.8%) received a probable molecular diagnosis and five patients (5.9%) received a possible molecular diagnosis. The possible diagnosis was due to a single heterozygous variant in a known recessive inherited retinal disease gene.
The remaining 13 patients (15.3%) did not have a clearly or likely pathogenic variant.
“This study highlights the potential of genetic testing to deliver molecular diagnoses rapidly and with a high success rate in pediatric [inherited retinal disease] cases. Implementation of approaches similar to the one reported here into routine clinical care reduce the time to diagnosis and enable early detection of syndromic disease,” the researchers wrote. – by Robert Linnehan
Disclosures: Taylor reports no relevant financial disclosures. Please see the study for all other authors’ relevant financial disclosures.
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Taylor RL, et al. Ophthalmology. 2017;doi:10.1016/j.ophtha.2017.02.005.
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