MeSH Browser

MeSH Supplementary: Corneal Dystrophy, Crystalline, of Schnyder
Unique ID: C535475
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535475
Entry Term(s): Corneal dystrophy crystalline of Schnyder; Schnyder corneal dystrophy; Schnyder crystalline corneal dystrophy
Registry Numbers: 0
Heading Mapped to: *Corneal Dystrophies, Hereditary
Frequency: 32
Note: 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 of Entry: 2010/08/25
Revision Date: 2016/09/29

Corneal Dystrophy, Crystalline, of Schnyder MeSH Supplementary Concept Data 2024