Human genes for granular corneal dystrophy 2
Granular corneal dystrophy 2 [DOID:0060444]
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.
Synonyms: granular corneal dystrophy 2, DOID:0060444, avellino corneal dystrophy, CGD2, combined granular-lattice corneal dystrophy ...