Ophthalmic observations in lecithin cholesterol acyltransferase deficiency
M. P. Vrabec, M. B. Shapiro, E. Koller, D. A. Wiebe, J. Henricks and J. J. Albers
Department of Ophthalmology, University of Wisconsin Medical School, Madison.
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.
