Term Name: Reis-Bucklers corneal dystrophy
Synonyms: anterior limiting membrane dystrophy type I, corneal dystrophy of Bowman layer type I, geographic corneal dystrophy, granular corneal dystrophy type III, RBCD
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.
Ontology: Human Disease [DOID:0060453]   ( DOID:0060453 )

Relationships
is a type of: epithelial-stromal TGFBI dystrophy