Schnyder crystalline corneal dystrophy

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Schnyder crystalline corneal dystrophy
Other namesCrystalline stromal dystrophy, Schnyder crystalline dystrophy sine crystals, Hereditary crystalline stromal dystrophy of Schnyder , Schnyder's crystalline corneal dystrophy
Schnyder corneal dystrophy 1.JPEG
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 ]

Notes

  1. Orr et al, PLoS One (2007) vol 2, e685 doi : 10.1371/journal.pone.0000685 PMID   17668063
  2. Yellore et al, Molec Vision (2007) vol 13, 1777-1782 PMID   17960116
  3. Weiss et al, IOVS (2007) vol 48, 5007-5012 doi : 10.1167/iovs.07-0845 PMID   17962451

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