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Usher's syndrome—deafness and progressive blindness

Clinical cases, prevention, theory and literature survey
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      Abstract

      The usual description of Usher's syndrome as a congential deafness and retinitis pigmentosa is incomplete. There is also central nervous system degeneration manifesting variably in psychiatric illness, loss of olfactory sensitivity, aphasia, mental retardation, abnormal EEG readings and other neuropathology and behavioral correlates. While it is a rare disease in the general population (3 cases per 100,000 population), it is significantly prevelant among those who are deaf. For example, approximately 5–10 per cent of the genetically deaf are afflicted with this handicap.
      The disease is generally reported as being inherited autosomal recessively. Recent research indicates that heterozygote carriers of Usher's may be identifiable by complete auditory, visual, and vestibular diagnostic procedures.
      Usher's is more common in family pedigrees having cases of retinitis pigmentosa without deafness, which along with the variance of traits found in persons with Usher's, raises serious questions about its genetics and the possible embryologic, toxic, and metabolic processes in its pathogenesis.
      Commonly used techniques for diagnosing the disease (ophthalmoscopic examination and visual field testing) fail to detect the condition until it is in a relatively advanced stage and the patient is usually in his late teens. More thorough techniques involving electroretinography, electrooculography, and dark adaptation measures make possible much earlier diagnosis.
      Although a wide variety of treatments have been tried including surgery, endocrine therapy, vitamins, and transplants, at present the disease cannot be cured nor its course be significantly altered. This places a premium on prevention.
      A program for prevention through high risk diagnostic screening coupled with genetic counseling is both feasible and practical. The already existant centralization of the high risk populations assures a yield from screening procedures of probably 5–10 per cent. Thus, prevention is strongly urged in view of the trauma and chronicity of the affliction.
      Research into biochemical genetic, metabolic, psychiatric, and other behavioral aspects of Usher's offers hope for not only better understanding of this disease, but also for findings of far greater generality. Usher's represents a centering of gross central nervous system pathology with major psychological correlates such as aphasia, memory pathology, psychosis, and mental retardation. An understanding of the pathogenesis of Usher's may give insight into causes of forms of these other conditions.
      The data on the case studies presented substantiates the existence of extensive neuropsychological symtomatology concurrent with the loss of hearing and sight. The findings also raise the question of whether or not the deafness is congenital suggesting that it and the vestibular pathology may be progressive, but well advanced by age 2 or 3 yr.
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