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GTR Home > Conditions/Phenotypes > Schnyder crystalline corneal dystrophy

Schnyder crystalline corneal dystrophy

Synonyms
Corneal dystrophy crystalline of Schnyder; Crystalline corneal dystrophy; Schnyder corneal dystrophy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013). [from OMIM]

Available tests

12 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SCCD, TERE1, UBIAD1
    Summary: UbiA prenyltransferase domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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