Article
The genetics of leber hereditary optic neuropathy--prototype of an inherited optic neuropathy with mitochondrial dysfunction.
Seminars in ophthalmology - 1 Jan 2000
Eichhorn-Mulligan Knut, Cestari Dean M
Abstract excerpt
Leber Hereditary Optic Neuropathy is a maternally inherited condition that is characterized by acute or subacute bilateral loss of vision, usually in otherwise healthy young individuals. Several point mutations in the mitochondrial genome have been identified in patients with the condition. Scientific advances into a better understanding of the molecular pathogenesis have been hampered by the lack of an animal...
Topics
- DNA, Mitochondrial
- Genome, Mitochondrial
- Humans
- Mitochondrial Diseases
- Mutation
- Optic Atrophy, Hereditary, Leber