Auditory and optic neuropathy in Kjer's disease: case report.
OBJECTIVE
Description of a female patient with diagnosed Kjer's disease and sensorineural hearing loss, who specifically complained of a progressive inability to understand speech in noisy situations.


METHODS
Case report.


METHODS
A 30-year-old, Caucasian woman with Kjer's disease.


RESULTS
Audiological assessment showed low-frequency sensorineural hearing loss and a disproportionate deterioration in speech discrimination. This inconsistency gave rise to suspicion of possible aggravation. Follow-up testing showed that brainstem responses were absent, while clear otoacoustic emissions and cochlear microphonics were present. Hearing aids were fitted but no improvement was shown.


CONCLUSIONS
This case shows a combination of auditory neuropathy and Kjer's optic neuropathy. It also illustrates that the combination of unexplained hearing loss and apparently inconsistent audiometric outcomes may be associated with auditory neuropathy. Such unexpected hearing evaluation outcomes may be due to other neurological conditions, such as Kjer's disease.
Department of Otorhinolaryngology/Head and Neck Surgery, University Medical Center Groningen, University of Groningen, The Netherlands. s.c.haaksma@kno.umcg.nl
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Haaksma-Schaafsma
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van Dijk
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Dikkers
D000328:Adult; D001299:Audiometry; D003055:Cochlear Microphonic Potentials; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D006313:Hearing Loss, Central / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D009154:Mutation / Q000235:genetics; D029241:Optic Atrophy, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology; D013067:Speech Perception / Q000235:genetics / Q000502:physiology*
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human