Screening for leber's hereditary optic neuropathy associated mitochondrial dna mutations in patients with prominent optic neuritis

Bernadette Kalman, Jose Luis Rodriguez-Valdez, Ursula Bosch, Fred D. Lublin

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Previous case reports demonstrated the presence of Leber's hereditary optic neuropathy (LHON) associated mitochondrial (mt) DNA mutations in patients presenting with prominent optic neuritis (PON). By screening the mtDNA, we have excluded vie presence of these mutations in 22patients with PON, indicating that the frequency of these mutations is less than 4.5% in our selected patient population. Reviewing the clinical data of these patients revealed that severe optic nerve atrophy developed in association with both the benign and the severely disabling form of Multiple Sclerosis (MS). This observation suggests that the prominent feature of ON in MS may be related to local factors or to a selective vulnerability of the optic nerve in some patients. However, it also may be a consequence of a deleterious process associated with inflammatory demyelination in the central nervous system (CNS) of another, genetically probably distinct subgroup of severely disabled patients.

Original languageEnglish
Pages (from-to)279-282
Number of pages4
JournalMultiple Sclerosis
Issue number6
Publication statusPublished - Dec 1 1997



  • MtDNA mutations
  • Multiple sclerosis
  • Prominent optic neuritis

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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