Rosenberg T, Parving A
National Eye Clinic for the Visually Impaired, Hellerup, Denmark.
Acta Ophthalmol Scand Suppl. 1996(219):50-3. doi: 10.1111/j.1600-0420.1996.tb00387.x.
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.
