of Schnyder Crystalline Corneal Dystrophy

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

Also Known As:

Corneal Dystrophy, Crystalline, of Schnyder; Corneal dystrophy crystalline of Schnyder; Schnyder corneal dystrophy; Schnyder crystalline corneal dystrophy

Eye Diseases: 3620
- Corneal Diseases: 941
  - Hereditary Corneal Dystrophies: 830
    - of Schnyder Crystalline Corneal Dystrophy: 30
- Hereditary Eye Diseases: 19
  - Hereditary Corneal Dystrophies: 830
    - of Schnyder Crystalline Corneal Dystrophy: 30
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Hereditary Eye Diseases: 19
    - Hereditary Corneal Dystrophies: 830
      - of Schnyder Crystalline Corneal Dystrophy: 30

William Fredericks Selected Research

William Fredericks Research Topics

Disease

Drug/Important Bio-Agent (IBA)