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January 1976

Cerebrotendinous Xanthomatosis

Author Affiliations

From the Departments of Ophthalmology (Dr Kearns) and Community and Family Medicine (Dr Wood), Loyola University Medical Center, Maywood, Ill.

Arch Ophthalmol. 1976;94(1):148-150. doi:10.1001/archopht.1976.03910030080018

• A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease.