Related Experiment Videos
Corneal opacity in LCAT disease
D G Cogan1, H S Kruth, M B Datilis
1Cornea and Cataract Section, National Eye Institute, Bethesda, Maryland 20892.
Cornea
|November 1, 1992
Summary
Lecithin:cholesterol acyltransferase (LCAT) deficiency causes corneal opacification due to lipid deposits. This study provides the first histopathologic evidence of unesterified cholesterol in the corneal stroma of LCAT disease patients.
Area of Science:
- Ophthalmology
- Biochemistry
- Genetics
Background:
- Lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare dyslipoproteinemia.
- It is characterized by abnormal lipid metabolism and characteristic corneal opacities.
- Previous studies have described corneal changes, but detailed histopathology is limited.
Observation:
- A full-thickness corneal specimen from a patient with LCAT deficiency was analyzed.
- Clinical examination revealed progressive corneal opacification and peripheral arcus extending to the sclera.
- Microscopic examination showed vacuoles in the corneal stroma containing extracellular, membranous deposits.
Findings:
- Light microscopy identified prevalent vacuoles in the anterior corneal stroma.
- Electron microscopy revealed extracellular, membranous deposits within these vacuoles.
- This study presents the first histopathologic evidence of unesterified cholesterol in the corneal stroma of LCAT deficiency.
Implications:
- These findings enhance the understanding of corneal pathology in LCAT deficiency.
- Provides crucial histopathologic details of lipid deposition in the cornea.
- May guide future diagnostic and therapeutic strategies for LCAT deficiency-related eye conditions.