/congenital hereditary endothelial dystrophy type I

congenital hereditary endothelial dystrophy type I

Rare Disease

MONDO:0020365

Also Known As

CHED1CHEDIautosomal dominant CHEDautosomal dominant congenital hereditary endothelial dystrophycongenital hereditary endothelial dystrophy type 1

Definition

Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.