Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

ABSTRACT: Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophies, cataract, developmental eye disorders and optic atrophy, were investigated. In the vision gene panel analysis (likely), causative variants were detected in 49% and in the exome analysis in an addit

SUBMITTER: Haer-Wigman L 

PROVIDER: S-EPMC5437915 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature