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

Andrea Salmaggi, Franco Carrara, Massimo Zeviani

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)261-266
Number of pages6
JournalInternational Journal of Neuroscience
Volume77
Issue number3-4
DOIs
Publication statusPublished - 1994

Keywords

  • LHON
  • Mitochondrial DNA
  • Point mutation
  • Spontaneous recovery

ASJC Scopus subject areas

  • Neuroscience(all)

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