Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy

J Neurol Neurosurg Psychiatry. 2004 Apr;75(4):626-30. doi: 10.1136/jnnp.2003.017673.


Objective: To investigate auditory neural involvement in patients with Leber's hereditary optic neuropathy (LHON).

Methods: Auditory assessment was undertaken in two patients with LHON. One was a 45 year old woman with Harding disease (multiple-sclerosis-like illness and positive 11778mtDNA mutation) and mild auditory symptoms, whose auditory function was monitored over five years. The other was a 59 year old man with positive 11778mtDNA mutation, who presented with a long standing progressive bilateral hearing loss, moderate on one side and severe to profound on the other. Standard pure tone audiometry, tympanometry, stapedial reflex threshold measurements, stapedial reflex decay, otoacoustic emissions with olivo-cochlear suppression, auditory brain stem responses, and vestibular function tests were undertaken.

Results: Both patients had good cochlear function, as judged by otoacoustic emissions (intact outer hair cells) and normal stapedial reflexes (intact inner hair cells). A brain stem lesion was excluded by negative findings on imaging, recordable stapedial reflex thresholds, and, in one of the patients, olivocochlear suppression of otoacoustic emissions. The deterioration of auditory function implied a progressive course in both cases. Vestibular function was unaffected.

Conclusions: The findings are consistent with auditory neuropathy-a lesion of the cochlear nerve presenting with abnormal auditory brain stem responses and with normal inner hair cells and the cochlear nucleus (lower brain stem). The association of auditory neuropathy, or any other auditory dysfunction, with LHON has not been recognised previously. Further studies are necessary to establish whether this is a consistent finding.

Publication types

  • Case Reports

MeSH terms

  • Audiometry, Evoked Response
  • Audiometry, Pure-Tone
  • Brain Stem / physiopathology
  • Cochlear Nerve* / physiopathology
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics
  • Diagnosis, Differential
  • Evoked Potentials, Auditory, Brain Stem / genetics
  • Evoked Potentials, Auditory, Brain Stem / physiology
  • Female
  • Hearing Loss, Bilateral / diagnosis
  • Hearing Loss, Bilateral / genetics
  • Hearing Loss, Bilateral / physiopathology
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / physiopathology
  • Hearing Tests
  • Humans
  • Male
  • Middle Aged
  • Optic Atrophy, Hereditary, Leber / diagnosis*
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Atrophy, Hereditary, Leber / physiopathology
  • Reaction Time / physiology
  • Tinnitus / diagnosis
  • Tinnitus / genetics
  • Tinnitus / physiopathology
  • Vestibulocochlear Nerve Diseases / diagnosis*
  • Vestibulocochlear Nerve Diseases / genetics
  • Vestibulocochlear Nerve Diseases / physiopathology


  • DNA, Mitochondrial