DO_rare_slim epithelial-stromal TGFBI dystrophy Reis-Bucklers corneal dystrophy DOID:0060453 SNOMEDCT_US_2025_09_01:231930000 2015-10-16T17:51:03Z 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. disease_ontology ORDO:98961 MESH:C535476 MIM:608470 RBCD UMLS_CUI:C0339278 anterior limiting membrane dystrophy type I corneal dystrophy of Bowman layer type I geographic corneal dystrophy granular corneal dystrophy type III