Article
Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy.
Ophthalmic paediatrics and genetics - 1 Sept 1993
Oostra R J, Bolhuis P A, Bleeker-Wagemakers E M
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is characterized by subacute loss of central vision due to bilateral optic nerve atrophy accompanied by several nonspecific clinical findings. The only pathognomonic feature is its strictly maternal inheritance. It was therefore impossible to establish t...
Topics
- Adolescent
- Adult
- Child
- DNA Mutational Analysis
- DNA, Mitochondrial
- Humans
- Male
- Middle Aged
- Mutation
- Optic Atrophies, Hereditary
- Polymerase Chain Reaction