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Comparative study of visual, auditory, and olfactory function in Usher syndrome.

M Seeliger1, M Pfister, K Gendo

  • 1University Eye Hospital, Department II, Tübingen, Germany. see@uni-tuebingen.de

Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
|April 20, 1999
PubMed
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Usher syndrome patients showed advanced retinitis pigmentosa and varied hearing loss. However, olfactory function remained normal, with no correlation found between visual, auditory, and olfactory impairments in this study.

Area of Science:

  • Ophthalmology
  • Genetics
  • Otolaryngology

Background:

  • Usher syndrome is a genetic disorder causing retinitis pigmentosa (RP) and hearing loss.
  • Ciliary dysfunction is suspected due to mutations in proteins like myosin VIIA.
  • Preliminary data suggested potential olfactory deficits in Usher syndrome patients.

Purpose of the Study:

  • To quantitatively assess olfactory function in Usher syndrome patients.
  • To investigate correlations between impairments in visual, auditory, and olfactory systems.
  • To explore evidence for an underlying ciliary defect in Usher syndrome.

Main Methods:

  • Examined 39 Usher syndrome patients (8 type I, 31 type II).
  • Ophthalmologic assessments included visual acuity, morphology, perimetry, and electroretinography.

Related Experiment Videos

  • ENT evaluations included hearing tests and olfactory function tests.

    • Main Results:

    • Patients exhibited advanced RP with reduced visual fields and ERG responses.
    • Hearing loss averaged 100% in type I and 40% in type II.
    • Olfactory thresholds were normal, with no significant correlations between sensory system parameters.

    Conclusions:

    • Usher syndrome patients presented with advanced RP and distinct auditory profiles for type I and II.
    • No olfactory system impairment was detected in the studied Usher syndrome cohort.
    • No correlation was found between visual, auditory, and olfactory function parameters.