Article
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
Neurogenetics - 1 Jan 2015
Sergouniotis Panagiotis I, Perveen Rahat, Thiselton Dawn L, Giannopoulos Konstantinos, Sarros Marios, Davies Jennifer R, Biswas Susmito, Ansons Alec M, Ashworth Jane L, Lloyd I Christopher, Black Graeme C, Votruba Marcela
Abstract excerpt
Leber hereditary optic neuropathy and autosomal dominant optic atrophy are the two most common inherited optic neuropathies. The latter has been associated with mutations in the OPA1 and OPA3 genes. To date, only six families with OPA3-associated dominant optic atrophy have been reported. In orde...
Topics
- Adult
- Aged
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Humans
- Male
- Middle Aged
- Mutation
- Optic Atrophy, Autosomal Dominant
- Optic Disk
- Pedigree