Comments and Conclusions

  • The eye has figured prominently in the development of genetic and genomic approaches to human disease.2
  • In 1988, Leber’s hereditary optic neuropathy was the first human disease shown to be caused by a mutation of mitochondrial DNA.3
  • In case 2 of this presentation, the natural history of vision loss in LHON mt 11778 has been carefully documented.
  • Very similar results have been reported in another family over the last 9 years in the world’s largest LHON pedigree in Colatina Brazil.4,5
  • In preliminary studies in 5 patients with LHON, EPI 743 appears to be able to alter the natural history of the disease.1
  • Based upon the preliminary studies in these 5 patients, the US FDA has approved clinical trials to begin in July 2011.
  • A similar clinical trial has been approved by the Brazilian equivalent of the FDA and plans to randomize patients who convert in the giant Brazilian pedigree will likely begin in July.
  • Case 1 in this presentation was treated very early in the course of the disease and improvement in visual field sensitivity is possible since the ganglion cell complex reveals no loss of ganglion cells as yet.
  • For the first time in the 150 years since Theodor Leber reported this progressive optic neuropathy, an effective treatment may be on the horizon.