Article
Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.
Genetics research - 6 Jun 2016
Cohen Lior, Tzur Shay, Goldenberg-Cohen Nitza, Bormans Concetta, Behar Doron M, Reinstein Eyal
Abstract excerpt
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 mu...
Topics
- Child
- Consanguinity
- DNA, Mitochondrial
- Exome
- GTP Phosphohydrolases
- Humans
- Male
- Mutation
- Optic Atrophy, Autosomal Dominant
- Pedigree
- Sequence Analysis, DNA