A Case of Familial Lecithin-cholesterol Acyltransferase (LCAT) Deficiency.
10.3341/jkos.2008.49.5.831
- Author:
Jung Hwa NA
1
;
Hyun Seung KIM
Author Information
1. Department of Ophthalmology and Visual Science, The Catholic University of Korea, Seoul, Korea. sara514@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Corneal opacity;
Familial LCAT deficiency;
HDL;
LCAT;
Lipid metabolism
- MeSH:
Adult;
Anemia, Hemolytic;
Biopsy;
Cholesterol, HDL;
Corneal Opacity;
Corneal Pachymetry;
Endothelial Cells;
Hematuria;
Humans;
Hypertriglyceridemia;
Inclusion Bodies;
Kidney;
Light;
Lipid Metabolism;
Microscopy;
Microscopy, Electron;
Phosphatidylcholine-Sterol O-Acyltransferase;
Proteinuria;
Vacuoles
- From:Journal of the Korean Ophthalmological Society
2008;49(5):831-834
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: To report a case of a familial lecithin cholesterol acyltransferase (LCAT) deficiency patient with bilateral corneal opacities. CASE SUMMARY: A 26-year-old man with bilateral corneal opacities visited our hospital. We took slit lamp examination, corneal thickness measurement, corneal endothelial cell counts and fundus examination. Blood and urine tests were included. Kidney biopsy was done. The tissues were observed by a light microscopy and an electron microscopy. Hemolytic anemia, proteinuria, hematuria, hypertriglyceridemia, decreased HDL cholesterol level, and lecithin cholesterol acyltransferase (LCAT) deficiency were found. At kidney biopsy, electron-lucent vacuoles and lamellar inclusion body were found. CONCLUSIONS: Bilateral corneal opacities can be an imporant clinical sign of systemic disease which is caused by abnormal lipid metabolism like the familial lecithin cholesterol acyltransferase (LCAT) deficiency.
