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January 2022

A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract

Author(s): Parving, A.

Journal/Book: Acta Ophthalmol Scandinavica. 1996; 74: Sovangsvej 1-5, DK-2650 Hvidovre, Denmark. Scriptor Publisher. 50-53.

Abstract: A family with an unusual association of retinitis pigmentosa, progressive and severe hearing impairment, vestibular dysfunction, and congenital zonular cataract is described, The disease had a rather uniform appearance in five affected individuals, Parental consanguinity was documented in all cases and a common ancestor born in 1702 was identified, Consequently, autosomal recessive inheritance seems to be the most likely mode of transmission, This disorder possibly represents a new clinical entity among combined retinal dystrophy and hearing impairment syndromes.

Note: Article T Rosenberg, Natl Eye Clin Visually Impaired, Hellerup, Denmark

Keyword(s): retinitis pigmentosa; syndrome; sensorineural hearing impairment; congenital cataract; vestibular dysfunction; ALLIED DISORDERS; USHERS SYNDROME; POPULATION; DENMARK

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