Symbol
| CHED1
|
Location
| 20p11.23
|
HGNC id
| 1923
|
Name
|
congenital hereditary endothelial dystrophy of the cornea 1 |
Other name(s)
|
Maumenee corneal dystrophy |
Corresponding gene
|
OVOL2
|
Other symbol(s)
| CHED
|
Main clinical features
|
characterized by diffuse bilateral haziness of the cornea of variable degree
at the histopathologic level degeneration and abnormal corneal endothelium with cornea edema
characterized by significantly reduced vision |
Genetic determination
| autosomal dominant |
Function/system disorder
| eye |
Type
| disease
|