title: A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract.
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.
authors: National Eye Clinic for the Visually Impaired, Hellerup, Denmark.
authors: T
authors: T
authors: Rosenberg
authors: A
authors: A
authors: Parving
mesh_terms: D000328:Adult; D000368:Aged; D002386:Cataract / Q000150:complications* / Q000151:congenital* / Q000175:diagnosis; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D015837:Vestibular Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics