Schnyder crystalline corneal dystrophy information
Medical condition
Schnyder crystalline corneal dystrophy
Other names
Crystalline stromal dystrophy, Schnyder crystalline dystrophy sine crystals, Hereditary crystalline stromal dystrophy of Schnyder
, Schnyder's crystalline corneal dystrophy
Schnyder corneal dystrophy. Crystalline opacities are evident in the central cornea (Courtesy Dr. G.N. Foulks)
Specialty
Ophthalmology
Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene.[1][2][3] Cells in the cornea accumulate cholesterol and phosopholipid deposits leading to the opacity, in severe cases requiring corneal transplants. Abnormal cholesterol metabolism has been noted in other cell types of affected patients (skin fibroblasts) suggesting that this may be a systemic disorder with clinical manifestations limited to the cornea.[citation needed]
^Orr et al, PLoS One (2007) vol 2, e685 doi:10.1371/journal.pone.0000685 PMID 17668063
Schnydercrystallinecornealdystrophy (SCD) is a rare form of cornealdystrophy. It is caused by heterozygous mutations in UBIAD1 gene. Cells in the cornea...
cause. Other systemic conditions may be associated, such as Schnydercrystallinecornealdystrophy, an autosomal dominant condition frequently reported with...
or SCD may refer to: Salicylate decarboxylase, an enzyme Schnydercrystallinecornealdystrophy, an eye disease Sequential compression device, to improve...
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