corneal dystrophy of Bowman layer, type 2
corneal dystrophy of Bowman layer, type 2An autosomal dominant (OMIM:602082) form of corneal dystrophy characterised by honeycomb-like, subepithelial corneal opacities with recurrent erosions and loss of vision.
Has been linked to defects of TGFBI, which encodes an RGD protein that binds to type-I, -II and -IV collagens and plays a role in cell–collagen interactions. Mutations in TGFBI has been linked to a number of corneal dystrophies:
• Avellino type (OMIM:607541);
• Epithelial basement membrane (OMIM:121820);
• Groenouw type I (OMIM:121900);
• Lattice type I (OMIM:122200);
• Lattice type IIIA (OMIM:608471);
• Reis-Bucklers type (OMIM:608470);
• Thiel-Behnke type (OMIM:602082).