Article
[Leber's hereditary optic atrophy. A hereditary disease caused by mitochondrial DNA mutation].
Ugeskrift for laeger - 22 Oct 1990
Nørby S, Rosenberg T
Abstract excerpt
Leber's hereditary optic neuropathy is a genetic disorder characterized by sudden bilateral loss of vision. It is transmitted exclusively through females (matroclinous inheritance) due to a mutation in mitochondrial DNA (mtDNA), most frequently a GC----AT substitution of base pair no. 11778 ('The Wallace mutation'). All children of homoplasmic female carriers inherit the disease gene. Penetrance is incomplete,...
Topics
- Adolescent
- Adult
- Child
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Humans
- Male
- Mutation
- Optic Atrophies, Hereditary