Leber Hereditary Optic Neuropathy: Visual Recovery in a Patient With the Rare m.3890G>A Point Mutation

J Neuroophthalmol. 2017 Jun;37(2):166-171. doi: 10.1097/WNO.0000000000000462.


A 15-year-old boy experienced painless vision loss in the left eye of unknown duration. Leber hereditary optic neuropathy (LHON) was suspected, despite negative testing for the 3 most common pathogenic gene mutations and idebenone 300 mg 3 times daily was prescribed. Nine months later, the patient developed right eye involvement. Complete mitochondrial genome analysis revealed 2 rare variants-m.3890G>A of the MT-ND1 gene and m.8417C>A of the MT-ATP8 gene. The former has been described in severe infantile Leigh syndrome and LHON; the latter is of unknown significance. The patient experienced progressive visual deterioration through 12 months, but improved to 20/20, right eye and 20/25, left eye, at 21 months. Visual recovery can occur in a patient with bilateral optic neuropathy secondary to the rare m.3890G>A point mutation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Blindness / etiology*
  • Blindness / physiopathology
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Humans
  • Male
  • NADH Dehydrogenase / genetics*
  • NADH Dehydrogenase / metabolism
  • Optic Atrophy, Hereditary, Leber / complications*
  • Optic Atrophy, Hereditary, Leber / diagnosis
  • Optic Atrophy, Hereditary, Leber / genetics
  • Pedigree
  • Point Mutation*
  • Recovery of Function*
  • Tomography, Optical Coherence
  • Visual Acuity / physiology*


  • DNA, Mitochondrial
  • NADH Dehydrogenase
  • MT-ND1 protein, human