Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

ABSTRACT: Inherited optic neuropathies are a heterogeneous group of disorders characterized by mild to severe visual loss, colour vision deficit, central or paracentral visual field defects and optic disc pallor. Optic atrophies can be classified into isolated or non-syndromic and syndromic forms. While multiple modes of inheritance have been reported, autosomal dominant optic atrophy and mitochondrial inherited Leber's hereditary optic neuropathy are the most common forms. Optic atrophy type 1, caused by mutations in the OPA1 gene is believed to be the most common hereditary optic neuropathy, and most patients inherit a mutation from an affected parent. In this study we used whole-exome sequencing to investigate the genetic aetiology in a patient affected with isolated optic atrophy. Since the prob

SUBMITTER: Cohen L 

PROVIDER: S-EPMC6865152 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature