Electrophysiological study of Norrie's disease. An X-linked recessive trait with hearing loss.
3 patients with Norrie's diseas were examined with electrocochleography and brain-stem-evoked responses. The examination revealed a hearing loss of pure cochlear origin with no involvement of the brain stem. The disease is inherited as an X-linked recessive trait only affecting males with unaffected female carriers. The results are thus in agreement with previous investigations of the topical lesion in genetic hearing loss.
D000015:Abnormalities, Multiple; D000328:Adult; D001309:Auditory Threshold; D001766:Blindness / Q000235:genetics* / Q000503:physiopathology; D001933:Brain Stem / Q000503:physiopathology; D003056:Cochlear Nerve / Q000503:physiopathology; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005071:Evoked Potentials; D005260:Female; D005808:Genes, Recessive; D006311:Hearing Disorders / Q000503:physiopathology*; D006801:Humans; D008297:Male; D012160:Retina / Q000002:abnormalities*; D012737:Sex Factors; D013577:Syndrome; D014960:X Chromosome