corneal dystrophy of Bowman layer, type 1

corneal dystrophy of Bowman layer, type 1

An autosomal dominant (OMIM:608470) form of corneal dystrophy characterised by dusty corneal opacities and a rough, map-like surface with a peripheral condensation ring separated from the limbus by a narrow strip of normal cornea.
Molecular pathology
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.