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
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author Koenig, Lisa R.
Warren, Joshua Z.
Kulinski, Jacquelyn P.
author_facet Koenig, Lisa R.
Warren, Joshua Z.
Kulinski, Jacquelyn P.
author_sort Koenig, Lisa R.
collection PubMed
description 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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spelling pubmed-82885822021-07-26 Corneal Clouding in a Young Woman With Low HDL Cholesterol Koenig, Lisa R. Warren, Joshua Z. Kulinski, Jacquelyn P. JACC Case Rep Case Report 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.) Elsevier 2019-09-18 /pmc/articles/PMC8288582/ /pubmed/34316822 http://dx.doi.org/10.1016/j.jaccas.2019.07.020 Text en © 2019 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Koenig, Lisa R.
Warren, Joshua Z.
Kulinski, Jacquelyn P.
Corneal Clouding in a Young Woman With Low HDL Cholesterol
title Corneal Clouding in a Young Woman With Low HDL Cholesterol
title_full Corneal Clouding in a Young Woman With Low HDL Cholesterol
title_fullStr Corneal Clouding in a Young Woman With Low HDL Cholesterol
title_full_unstemmed Corneal Clouding in a Young Woman With Low HDL Cholesterol
title_short Corneal Clouding in a Young Woman With Low HDL Cholesterol
title_sort corneal clouding in a young woman with low hdl cholesterol
topic Case Report
url 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
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