Reis-Bucklers corneal dystrophy (DOID:0060453)
Alliance: disease page
Synonyms: anterior limiting membrane dystrophy type I; corneal dystrophy of Bowman layer type I; geographic corneal dystrophy; granular corneal dystrophy type III; RBCD
Alt IDs: OMIM:608470, MESH:C535476, ORDO:98961, UMLS_CUI:C0339278
Definition: 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.