Histopathology of corneal changes in lecithin-cholesterol acyltransferase deficiency

Abstract

Purpose: Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare entity. This dyslipoproteinemia may lead to corneal opacity, renal failure, and arteriosclerosis.

Methods: Presentation of a 66-year-old man with bilateral corneal opacification due to LCAT deficiency caused by a single-nucleotide exchange in codon 123 of gene. An extracapsular cataract extraction combined with full-thickness corneal transplantation was performed. The corneal specimen was analyzed by light and transmission electron microscopy.

Results: All stromal layers showed extracellular vacuoles with acid mucopolysaccharide contents measuring up to 2.5 microm. Amyloid deposits measuring up to 12 microm in diameter were detected in the stroma and especially predescemetally.

Conclusion: To our knowledge, this is the first histologic description of secondary amyloidosis in a full-thickness corneal specimen with LCAT deficiency. The disease is associated with anemia, proteinuria, a lack of plasma high-density lipoprotein, and the presence of target cells. Bilateral corneal opacification is a characteristic of the disease and may allow early detection of homozygous LCAT deficiency by the ophthalmologist.