Schnyder Corneal Dystrophy Workup

Updated: Jun 10, 2020
  • Author: Ahmed Farghaly Abdelhameed Omar, MD, PhD; Chief Editor: Hampton Roy, Sr, MD  more...
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Workup

Laboratory Studies

It is prudent to obtain fasting serum lipid levels, as both affected and unaffected members of Schnyder corneal dystrophy pedigrees may have hyperlipidemia and/or hypercholesterolemia.

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Other Tests

Confocal microscopy in more advanced stages of Schnyder corneal dystrophy may reveal the absence of corneal nerves.

Genetic testing should reveal mutations in the UBIAD1 gene in affected individuals.

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Histologic Findings

Histopathology shows unesterified and esterified cholesterol in basal epithelium; Bowman layer; stroma; and, occasionally, endothelium. Electron microscopy reveals dissolved lipid particles scattered in the subepithelial space throughout the stroma and, rarely, the endothelium. Immunohistochemical analysis has revealed the preferential deposition of apolipoprotein components of HDL. Deposition of cholesterol crystals in patients with Schnyder corneal dystrophy (see the image below) resembles deposition of cholesterol crystals in human atherosclerotic lesions.

A 20-year-old woman with ringlike deposition of an A 20-year-old woman with ringlike deposition of anterior stromal cholesterol crystals. Weiss JS: Schnyder's dystrophy of the cornea: a Swede-Finn connection. Cornea 1992; 11(2): 93-101.
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