Term Name: granular corneal dystrophy 2
Synonyms: avellino corneal dystrophy, CGD2, combined granular-lattice corneal dystrophy, corneal dystrophy, Avellino type, granular corneal dystrophy type 2
Definition: An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.
Ontology: Human Disease [DOID:0060444]   ( DOID:0060444 )

Relationships
is a type of: granular corneal dystrophy