Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies

Thomas M. Bosley, Khaled K. Abu-Amero

Research output: Contribution to journalReview articlepeer-review


Purpose: The high mutation rate in the mitochondrial genome makes it difficult to be certain about mtDNA pathology, and yet we now recognize several primary and provisional Leber hereditary optic neuropathy (LHON) mutations (which are commonly pathologic) and a larger number of secondary LHON mutations (which are often associated with certain primary LHON mutations and may contribute to pathogenicity), haplogroup-specific mitochondrial DNA (mtDNA) sequence variants, and simple polymorphisms (which are not commonly pathologic). Conclusions: An enormous amount of information is now known about mitochondria, the apparent dependence of the optic nerve on mitochondria, various metabolic effects of primary LHON mutations, and certain ways in which these nucleotide changes might harm the optic nerve are discussed.

Original languageEnglish (US)
Pages (from-to)163-172
Number of pages10
JournalOphthalmic genetics
Issue number4
StatePublished - Dec 2010
Externally publishedYes


  • Leber hereditary optic neuropathy
  • mitochondrial DNA
  • mitochondrial disease
  • non-arteritic ischemic optic neuropathy
  • optic neuritis
  • optic neuropathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)


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