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. © 1994 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.

Remarkable recovery of visual function in a patient with leber's optic neuropathy and multiple mutations of mitochondrial DNA

Zeviani M.
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. © 1994 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3354592
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