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Usher's syndrome.

作者信息

Samuelson S, Zahn J

机构信息

University of Nebraska Medical Center, Department of Ophthalmology, Omaha 68105.

出版信息

Ophthalmic Paediatr Genet. 1990 Mar;11(1):71-6. doi: 10.3109/13816819009012950.

Abstract

Usher's syndrome is an autosomal recessive condition of congenital sensorineural hearing loss and retinitis pigmentosa. Other abnormalities are present but inconsistently, suggesting the genetic concepts of pleiotropy and heterogeneity. Accordingly, several classifications have been suggested. Clinical findings involve the visual, auditory and vestibular systems. The identification of the carrier state would allow for more timely and accurate genetic counselling. A screening program for Usher's syndrome appears feasible. This would allow affected, deaf individuals to prepare themselves for the expected visual loss giving them a better chance for a productive, fulfilling life.

摘要

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