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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 98967
Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.
The prevalence of this form of corneal dystrophy is not known.
Lesions usually develop early in life and are mostly bilateral, but one eye may become affected prior to the other. Some patients complain of glare, which increases with age. Visual acuity gradually decreases. Associated systemic disorders have been commonly reported (hypercholesterolemia, arcus lipoides and genu valgum). Over time, small white opacities develop in the corneal stroma along with a diffuse haze. In about 50% of patients, crystals are not observed clinically.
SCD is caused by various mutations in the UBIAD1 gene (1p36.22).
Typically, a ring-shaped yellow-white opacity composed of innumerable fine needle-shaped crystals forms in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.
SCD should be differentiated from other lipid keratopathies and particular from lecithin cholesterol acyltransferase disease (LCAT deficiency, see this term).
An autosomal dominant pattern of inheritance has been reported.
Management and treatment
The superficial pathologic corneal tissue needs to be excised.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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