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Corneal Clouding in a Young Woman With Low HDL Cholesterol
Lisa R Koenig1, Joshua Z Warren2, Jacquelyn P Kulinski3
1Weill Cornell Medical College, New York, New York.
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.).
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