Habiel M., Babayeva S., Zaidman G.W., Juechter K.
Novel corneal histopathological findings in lecithin-cholesterol acyltransferase (LCAT) deficiency
Purpose. To describe new light and electron microscopy findings on two penetrating keratoplasty specimens from a patient with LCAT deficiency.
Material and methods. A 38 year old with complaints of decreased vision and increased glare was referred for corneal edema in the left eye. The patient's past medical history was significant for familial LCAT deficiency. Ophthalmic examination including corneal pachymetry was performed in each eye. A penetrating keratoplasty (PKP) was performed in each eye 14 months apart. Cataract surgery was also done in the left eye 7 months following PKP. The corneal specimens were prepared for light and electron microscopy.
Results. Corneal pachymetry was 581 OD and 628 OS. On light microscopy, vacuoles were present in the epithelium, stroma, within keratocytes and in the endothelium. The vacuoles were found to disrupt the stromal lamellar collagen bundles. On Alcian Blue stain, the material in and around the vacuoles stained positively indicating mucopolysaccarides. Transmission electron microscopy confirmed numerous vacuoles in the areas seen on light microscopy. Many vacuoles were membrane bound containing fine granular material; some also contained lamellar structures. The vacuoles were numerous in the corneal endothelium.
Conclusion. We believe this is the first description of LCAT deficiency as a condition that extends intracellular within stromal keratocytes and to the corneal endothelium, corresponding with the presentation of increased corneal thickness and possible endothelial pump dysfunction. This may explain the pathophysiology of decreased vision in LCAT deficiency.
Key words: corneal pathology, endothelial cell.
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