Van Went and Wibaut first described it in the Dutch literature in 1924, and it was delineated further by Schnyder in the Swiss literature in 1929. The pathogenesis remains unknown, but it is postulated to result from a localized defect of lipid metabolism. SCCD has been mapped to chromosome band 1p34-36. Although rare sporadic cases have been reported, SCCD is primarily an autosomal dominant disease, affecting both sexes with equal probability. The dystrophy can appear as early as the first year of life.
Progression is slow.
Typically, SCCD can be diagnosed clinically. The diagnosis may be more difficult in patients without crystals. The corneal findings are predictable on the basis of the patient s age. Loss of corneal sensation may be more profound in advanced cases. Patients who are younger than 23 years demonstrate only a central corneal opacity, which may involve the entire stroma with or without central subepithelial cholesterol crystals.