Article
[Leber's optic neuropathy: new diagnostic prospects].
Journal francais d'ophtalmologie - 1 Jan 1992
Pagot V, Malecaze F, Rötig A, Simorre V, Maillard P, Mathis A, Munnich A
Abstract excerpt
The diagnosis of Leber's hereditary optic neuropathy, essentially based on a family history of a similar illness, becomes difficult in sporadic cases. In this disease, mitochondrial DNA mutations have been recently discovered and detected by digestion with restriction enzyme after amplification b...
Topics
- Adult
- DNA Mutational Analysis
- DNA, Mitochondrial
- Humans
- Male
- Mutation
- Optic Atrophies, Hereditary
- Polymerase Chain Reaction
