Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA.
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 of the disease.
Salmaggi
A
A
2nd Division of Neurology, Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.
Carrara
F
F
Zeviani
M
M
D000293:Adolescent; D004272:DNA, Mitochondrial; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000503:physiopathology; D010641:Phenotype; D017354:Point Mutation; D014785:Vision, Ocular / Q000502:physiology*; D014792:Visual Acuity
D004272:DNA, Mitochondrial