Article
Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA.
The International journal of neuroscience - 1 Aug 1994
Salmaggi A, Carrara F, Zeviani M
Abstract excerpt
Almost complete spontaneous recovery in visual function was observed in a male patient with Leber's hereditary optic neuropathy (LHON), in spite of the presence of several LHON-associated "major" and "minor" mutations of mitochondrial DNA. Our findings confirm that visual loss in LHON may be reversible, and challenge the hypothesis of a "synergistic" effect of multiple mtDNA mutations in the phenotypic expression...
Topics
- Adolescent
- DNA, Mitochondrial
- Humans
- Male
- Optic Atrophies, Hereditary
- Phenotype
- Point Mutation
- Vision, Ocular
- Visual Acuity