網膜色素変性, 白点状網膜炎を伴つた先天性難聴

抄録

Six cases of congenital deafness with retinitis pigmentosa (Usher's syndrome) and one case of congenital deafness with retinitis punctata albescens were found among 143 deaf school children. Five out of the seven cases had deaf siblings. Parents of one case were consanguineous marriage. Two of them were total deafness, three were subtotal deafness and the remaining two showed severe sensorineural hearing loss in middle to high frequencies. There were similarities in the audiograms of the deaf siblings. No unilateral deafness was seen. Four cases showed canal paresis. Most cases were under-grown and their intelligence quotients were relatively low. The association of congenital deafness and retinitis punctata albescens, which was seen in a 17-year-old girl, appeared also to be an autosomal recessive hereditary disease.