Avellino corneal dystrophy

(redirected from combined granular-lattice corneal dystrophy)

Avellino corneal dystrophy

An autosomal dominant (OMIM:607541) form of corneal dystrophy that is considered a variant of granular dystrophy and has a significant amyloidogenic tendency.

Molecular pathology
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.
Full browser ?