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  • Title: A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract.
    Author: Rosenberg T, Parving A.
    Journal: Acta Ophthalmol Scand Suppl; 1996; (219):50-3. PubMed ID: 8741120.
    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.
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