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February 1988

Ophthalmic Observations in Lecithin Cholesterol Acyltransferase Deficiency

Author Affiliations

From the Departments of Ophthalmology (Drs Vrabec and Shapiro), Medicine (Dr Koller), Pathology and Laboratory Medicine (Dr Wiebe), and Medical Genetics (Ms Henricks), University of Wisconsin Medical School, Madison; and Department of Medicine, University of Washington School of Medicine, Seattle (Dr Albers). Dr Vrabec is now with the University of Iowa Hospitals, Iowa City.

Arch Ophthalmol. 1988;106(2):225-229. doi:10.1001/archopht.1988.01060130235035

• Lecithin cholesterol acyltransferase is an enzyme that esterifies free cholesterol. A complete deficiency of this enzyme results in a diffusely cloudy cornea. This deficiency is thought to be transmitted as an autosomal recessive trait. We studied a family in which four members were homozygote recessive. In the homozygote recessive condition, a central corneal haze caused by deposition of numerous minute gray dots was consistently present. In the heterozygote condition, arcuslike changes were present in some of the patients studied. We found the corneal change in the recessive state to be sensitive and specific as a marker of this condition. Heterozygotes appear to have a higher incidence of arcuslike corneal chanaes.