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Schnyder crystalline corneal dystrophy

AI overview

Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy.

Key points
  • It is caused by heterozygous mutations in the UBIAD1 gene.
    source quote
    It is caused by heterozygous mutations in UBIAD1 gene.
  • Cells in the cornea accumulate cholesterol and phospholipid deposits leading to opacity.
    source quote
    Cells in the cornea accumulate cholesterol and phosopholipid deposits leading to the opacity
  • Abnormal cholesterol metabolism has been noted in other cell types, suggesting it may be a systemic disorder with manifestations limited to the cornea.
    source quote
    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
Symptoms
  • Opacity of the cornea.
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    leading to the opacity
Treatment
  • Corneal transplants may be required in severe cases.
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    in severe cases requiring corneal transplants.
AI-synthesized from the Wikipedia article “Schnyder crystalline corneal dystrophy”. Not medical advice. Verify source →
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. Crystalline opacities are evident in the central cornea (Courtesy Dr. G.N. Foulks)
SpecialtyOphthalmology

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]

  1. ↑ Orr A, Dubé MP, Marcadier J; et al. (2007). "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy". PLOS ONE. 2 (8): e685. Bibcode:2007PLoSO...2..685O. doi:10.1371/journal.pone.0000685. PMC 1925147. PMID 17668063.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  2. ↑ Yellore VS, Khan MA, Bourla N; et al. (2007). "Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy". Mol. Vis. 13: 1777–82. PMID 17960116.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  3. ↑ Weiss JS, Kruth HS, Kuivaniemi H; et al. (November 2007). "Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 48 (11): 5007–12. doi:10.1167/iovs.07-0845. PMID 17962451.{{cite journal}}: CS1 maint: multiple names: authors list (link)