“…1,4,5 Keratoepithelin, the protein product of the TGFBI gene, is an extracellular matrix protein expressed in many tissues including corneal epithelium. 4,6 Most patients have mutations at mutational hot spots, corresponding to arginine 124 and 555 of the keratoepithelin protein. 5,6 The diagnosis of corneal dystrophy is usually based on the clinical findings and the histopathological characteristics of the corneal deposits.…”