Article
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Ophthalmology - 1 Mar 2011
Yu-Wai-Man Patrick, Shankar Suma P, Biousse Valérie, Miller Neil R, Bean Lora J H, Coffee Bradford, Hegde Madhuri, Newman Nancy J
Abstract excerpt
PURPOSE: Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease. Approximately 60% of cases harbor OPA1 mutations, whereas OPA3 mutations have been reported in...
Topics
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- GTP Phosphohydrolases
- Genetic Testing
- Humans
- Male
- Middle Aged
- Mutation
- Nucleic Acid Hybridization
- Optic Atrophy