Term Name: | granular corneal dystrophy 2 |
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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 ) |