Corneal Clouding in a Young Woman With Low HDL Cholesterol. JACC Case Rep 2019 Oct;1(3):343-345
Date
09/18/2019Pubmed ID
34316822Pubmed Central ID
PMC8288582DOI
10.1016/j.jaccas.2019.07.020Abstract
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.).
