[Usher syndrome: a case report].
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.
Drouet
A
A
Service de Neurologie, Hôpital d'instruction des Armées Desgenettes, Lyon.
Swalduz
B
B
Guilloton
L
L
Faivre
A
A
Felten
D
D
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
C437067:CLRN1 protein, human; D008565:Membrane Proteins
Le syndrome de Usher: à propos d'une observation.