Human genes for Reis-Bucklers corneal dystrophy
Reis-Bucklers corneal dystrophy [DOID:0060453]
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis in 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 especially of Bowman's membrane of the cornea.
Synonyms: Reis-Bucklers corneal dystrophy, DOID:0060453, ReisBucklers corneal dystrophy, Reis-Bucklers corneal dystrophies, anterior limiting membrane dystrophy type I ...