Corneal Clouding in a Young Woman With Low HDL Cholesterol

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 lipoprotei...

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Detalles Bibliográficos
Autores principales: Koenig, Lisa R., Warren, Joshua Z., Kulinski, Jacquelyn P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8288582/
https://www.ncbi.nlm.nih.gov/pubmed/34316822
http://dx.doi.org/10.1016/j.jaccas.2019.07.020
Descripción
Sumario: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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