title: [Usher syndrome: a case report].
abstract: 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.
authors.affiliation: Service de Neurologie, Hôpital d'instruction des Armées Desgenettes, Lyon.
authors.forename: A
authors.initials: A
authors.lastname: Drouet
authors.forename: B
authors.initials: B
authors.lastname: Swalduz
authors.forename: L
authors.initials: L
authors.lastname: Guilloton
authors.forename: A
authors.initials: A
authors.lastname: Faivre
authors.forename: D
authors.initials: D
authors.lastname: Felten
mesh_terms: D001921:Brain / Q000473:pathology*; D003241:Consanguinity; D003937:Diagnosis, Differential; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D012174:Retinitis Pigmentosa / Q000150:complications / Q000473:pathology; D013577:Syndrome
chemical_list: C437067:CLRN1 protein, human; D008565:Membrane Proteins
vernacular_title: Le syndrome de Usher: à propos d'une observation.