Corneal Dystrophy, Crystalline, of Schnyder [Supplementary Concept]
A hereditary corneal dystrophy characterized by abnormal deposition of cholesterol and phospholipids in the cornea, resulting in progressive and bilateral opacity. Affected individuals experience glare and loss of vision due to light scattering. The opacity begins early in life as an oval shaped clouding in the center of the cornea; only half of patients have crystalline corneal cholesterol deposits. It is caused by a mutation in the transitional epithelia response (TERE1/UBIAD1) gene. OMIM: 121800
Date introduced: August 25, 2010
MeSH Unique ID: C535475
Heading Mapped to:
Entry Terms:
- Corneal dystrophy crystalline of Schnyder
- Schnyder crystalline corneal dystrophy
- Schnyder corneal dystrophy