Recognizing Familial Lecithin Cholesterol Acyltransferase Deficiency at the Slit Lamp

Abstract

To the Editor. —We read with great interest the fine article by Vrabec and associates1in the February 1988 issue of theArchivesand congratulate the authors on their study of a large family with lecithin cholesterol acyltransferase (LCAT) deficiency. The main clinical features of this complex disturbance in plasma lipids and lipoproteins are anemia, proteinuria, and corneal opacities.2In 1987 we reviewed all of the literature on patients with familial LCAT deficiency and we described the first case reported in Germany.3Corneal opacification was noted in all homozygous cases reported in the literature as well as in our own patient. In contrast, anemia was present at the time of diagnosis in 92% of the reviewed cases and proteinuria was present in 76% of cases. Thus, corneal opacification is the single obligatory clinical sign of LCAT deficiency. In addition to this, the overall opacity pattern is the