A transforming growth factor-β (TGF-β)-induced extracellular matrix (ECM) protein, βigh3, has been considered a major component of abnormal extracellular deposits in the cornea and its mutations and responsible for 5q31-linked human autosomal dominant corneal dystrophies (CDs) [8]. The gene discussed is TGFBI; the disease is cerebral creatine deficiency syndrome.