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Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees.

Gary Rance1, Lisa S Kearns, Johanna Tan

  • 1Department of Otolaryngology, The University of Melbourne, 550 Swanston Street, Parkville, 3010, Australia. grance@unimelb.edu.au

Journal of Neurology
|September 3, 2011
PubMed
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Leber

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Area of Science:

  • Neuroscience
  • Genetics
  • Ophthalmology

Background:

  • Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease primarily affecting vision.
  • Neurological abnormalities are known in LHON, but auditory involvement is less understood.

Purpose of the Study:

  • To investigate auditory dysfunction in individuals with LHON.
  • To determine the perceptual impact of auditory neuropathy (AN) in LHON patients.

Main Methods:

  • Genetic testing confirmed LHON mutations in 48 participants.
  • Electrophysiological tests assessed auditory brainstem potentials.
  • Auditory perception tests evaluated temporal cue detection and speech understanding.

Main Results:

  • Over 25% of LHON participants showed electrophysiological evidence of auditory neuropathy (AN).
  • Abnormalities were linked to specific LHON mutations, with mtDNA11778 being most affected.
  • Impaired temporal cue detection and speech perception were noted in symptomatic and asymptomatic individuals.

Conclusions:

  • Auditory dysfunction, including AN, is part of the neurological spectrum in LHON.
  • Central auditory pathway abnormalities can lead to functional hearing difficulties in LHON patients.
  • Hearing impairment may occur even in asymptomatic individuals with LHON genetic profiles.