Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome

J Neurol. 2010 Dec;257(12):1999-2003. doi: 10.1007/s00415-010-5649-6. Epub 2010 Jul 15.


Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by bilateral painless optic atrophy and blindness. It usually occurs in young men in association with three major mutations in the mitochondrial genome (mtDNA). We report a patient with a history of alcohol abuse who developed at age 63 years visual impairment, sensorineural hearing loss, and memory dysfunction, suggestive of Susac's syndrome. The patient carried the heteroplasmic mt. 11778G>A mutation on the T2e mtDNA haplogroup. It remains unclear if chronic alcohol abuse combined with the mitochondrial genetic background prompted an aged-related neurodegeneration or deferred the onset of the LHON disease.

Publication types

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

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Male
  • Middle Aged
  • Optic Atrophy, Hereditary, Leber / diagnosis*
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Atrophy, Hereditary, Leber / pathology
  • Susac Syndrome / diagnosis*
  • Susac Syndrome / genetics
  • Susac Syndrome / pathology