The ultrastructure of lens and iris in cerebrotendinous xanthomatosis.
The lens and an iris biopsy from a patient with cerebrotendinous xanthomatosis has been examined in the electron microscope. Subepithelial electron-lucent areas were demonstrated. The iris was normal. The lens changes were thought to be due to deposition of the specific cholesterol breakdown product inherent to this disease.
D000328:Adult; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D002386:Cataract / Q000473:pathology; D002784:Cholesterol / Q000378:metabolism; D005260:Female; D006801:Humans; D007498:Iris / Q000648:ultrastructure*; D007908:Lens, Crystalline / Q000648:ultrastructure*; D013577:Syndrome; D013710:Tendons; D014973:Xanthomatosis / Q000235:genetics / Q000473:pathology*
D002784:Cholesterol