Human genes for lattice corneal dystrophy
Lattice corneal dystrophy [DOID:8943]
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior 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 located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface.
Synonyms: lattice corneal dystrophy, DOID:8943, lattice corneal dystrophies, familial amyloid neuropathy, Finnish type, Lattice corneal dystrophy type 1 ...