Corneal Clouding in a Young Woman With Low HDL Cholesterol

Abstract

This report describes the early diagnosis of lecithin cholesterol acyl transferase deficiency in a young asymptomatic woman who initially presented to ophthalmology with bilateral corneal clouding. The diagnosis was suggested by characteristic slit-lamp findings, undetectable high-density lipoprotein, and proteinuria, and it was confirmed by cardiology consultation and genetic testing. (Level of Difficulty: Beginner.)

Keywords

• genetic disorders
• lipid metabolism disorders
• metabolic syndrome X