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

ABSTRACT:

Purpose

A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs).

Methods

Two hundred one unrelated children (0-5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK. The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. All participants underwent panel-based genetic testing.

Results

The diagnostic yield of genetic

SUBMITTER: Lenassi E 

PROVIDER: S-EPMC7118019 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature