Ophthalmic observations in lecithin cholesterol acyltransferase deficiency.

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 changes.