Term Name: granular corneal dystrophy 1
Synonyms: corneal dystrophy, Groenouw type I
Definition: A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface.
Ontology: Human Disease [DOID:0080530]   ( DOID:0080530 )

Relationships
is a type of: granular corneal dystrophy