corneal dystrophy, Groenouw type 1

corneal dystrophy, Groenouw type 1

An autosomal dominant (OMIM:121900) form of corneal dystrophy characterised by progressive corneal opacification with loss of vision.
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.