Leber’s Hereditary Optic Neropathy

  • A century and a half ago, Theodor Leber discovered an acute onset optic neuropathy typically affecting males in their 20’s which invariably led to optic atrophy and irreversible blindness.
  • This disorder, Leber’s Hereditary Optic Neuropathy (LHON), is now known to be maternally transmitted and due to a single point mutation occurring in mitochondrial DNA (mt DNA).
  • Attempts to treat LHON have been largely unsuccessful, but identification and now avoidance of trigger mechanisms – such as smoking and alcohol – have been stressed to those with the genetic predisposition.
  • An experimental therapeutic, EPI-743, which is being developed for life-threatening inherited respiratory chain diseases of the mitochondria, has demonstrated preliminary success in treating patients in the acute conversion phase of LHON.1
  • In this week’s series of cases, a 27-year old male who recently converted and then treated with EPI-743 is presented as well as another patient whose exemplary acute conversion and progression to blindness is well documented by fundus imaging, fields, and retinal nerve fiber layer measurements with OCT and GDx.