Revue Neurologique 2003-Mar
[Usher syndrome: a case report].
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A 60-year-old Jewish woman with consangineous parents had a history of severe sensorineural hearing loss since the age of 2 years. Hearing loss had not progressed since childhood, but her visual impairment due to pigmentary retinopathy, known since childhood, had worsened 15 years ago. The diagnosis was Usher syndrome type I, a rare heterogeneous disorder of autosomal recessive inheritance. Abnormal vestibular function and ataxia with neuroimaging anomalies including cerebellar atrophy have been reported, suggesting the disease process also involves the brain.