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Usher's syndrome. CNS defects determined by computed tomography.

T D Bloom, G A Fishman, M F Mafee

    Retina (Philadelphia, Pa.)
    |January 1, 1983
    PubMed
    Summary

    Usher syndrome, a genetic disorder, can cause cerebellar and occipital lobe atrophy in patients. Brain imaging revealed abnormal hindbrain circulation in many individuals, suggesting central nervous system defects.

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    Area of Science:

    • Neurology
    • Genetics
    • Ophthalmology

    Background:

    • Usher syndrome is a genetic disorder characterized by hearing loss and retinitis pigmentosa.
    • The genetic basis and full spectrum of clinical manifestations of Usher syndrome are not completely understood.

    Purpose of the Study:

    • To investigate potential central nervous system (CNS) abnormalities in patients with Usher syndrome.
    • To explore the association between Usher syndrome and structural brain changes.

    Main Methods:

    • Computed tomography (CT) scans were performed on 12 patients diagnosed with Usher syndrome.
    • Continuous rapid rotational CT scans were utilized to assess hindbrain circulation patterns.

    Main Results:

    • Cerebellar atrophy was observed in 6 out of 12 patients.

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  • Occipital lobe atrophy was present in 3 of the patients with cerebellar atrophy.
  • Abnormal hindbrain circulation patterns were detected in 7 patients.

    • Conclusions:

    • The findings suggest a potential link between Usher syndrome and CNS structural defects.
    • Cerebellar and occipital lobe atrophy may be part of the pleiotropic effects associated with the Usher syndrome gene.
    • Further research is warranted to elucidate the neurological manifestations of Usher syndrome.