Usher's syndrome. CNS defects determined by computed tomography.
Six of the 12 patients with Usher's syndrome, assessed with computed tomography (CT), demonstrated findings of cerebellar atrophy. Of these, three patients also showed occipital lobe atrophy. Continuous rapid rotational CT scans disclosed seven patients with abnormal hindbrain circulation pattern. Our results suggest that central nervous system (CNS) defects may be among the pleiotropic effects of the Usher's syndrome gene.
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002526:Cerebellar Diseases / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics; D002531:Cerebellum / Q000473:pathology; D002560:Cerebrovascular Circulation; D003638:Deafness / Q000150:complications; D005260:Female; D005684:Gait; D006801:Humans; D008297:Male; D008875:Middle Aged; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed