Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation

Ann Neurol. 2002 Mar;51(3):388-92. doi: 10.1002/ana.10151.


We report on a 25-year-old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene. He suffered from septo-optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, and rhabdomyolysis. A HESX1 mutation was excluded as a cause of his septo-optic dysplasia. Low alpha-tocopherol concentrations in his muscles and an elevated urinary leukotriene E(4) excretion indicate increased production of reactive oxygen species.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence / genetics
  • Antioxidants / metabolism
  • Cells, Cultured
  • Cytochrome b Group / genetics*
  • Electron Transport Complex III / deficiency
  • Fibroblasts / enzymology
  • Humans
  • Leukotriene E4 / urine
  • Male
  • Mitochondria / metabolism*
  • Muscle, Skeletal / enzymology
  • Mutation*
  • Pedigree
  • Polymorphism, Genetic / genetics
  • Septo-Optic Dysplasia / genetics*
  • Septo-Optic Dysplasia / metabolism


  • Antioxidants
  • Cytochrome b Group
  • Leukotriene E4
  • Electron Transport Complex III