Article
[Atypical presentation of Leber's optic neuropathy].
Klinische Monatsblatter fur Augenheilkunde - 1 May 1994
Borruat F X, Sanders M D
Abstract excerpt
BACKGROUND: Leber's optic neuropathy (LON) is the phenotypic expression of an inherited disorder due to a mitochondrial DNA mutation. Numerous loci of a point mutation in the mitochondrial genome are reported: 3460, 4160, 11778, 14484 and, 15257. Typically visual loss occurs in young males and a...
Topics
- Adult
- DNA, Mitochondrial
- Diagnosis, Differential
- Female
- Humans
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mutation
- Optic Atrophies, Hereditary
- Optic Nerve
- Phenotype
