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Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of
A Salmaggi1, F Carrara, M Zeviani
12nd Division of Neurology, Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.
The International Journal of Neuroscience
|August 1, 1994
Abstract:
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.