Norrie's disease in an Asian family.
Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family with typical features of Norrie's disease.
Harendra de Silva
D G
DG
Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka.
de Silva
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DB
D000328:Adult; D001766:Blindness / Q000235:genetics*; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013188:Sri Lanka; D013577:Syndrome