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.