Current study situation of TGFBI Gene related corneal dystrophy in China

Genotypic analysis has revealed that TGFBI gene is the most important and common pathogenic gene to corneal dystrophy.Tirty-three mutations of TGFBI gene had been reported in corneal dystrophy families.Keratoepithelin protein (KE protein) expressed by TGFBI gene was always deposited in the different layer of the cornea.In Chinese corneal dystrophy families,17 TGFBI gene mutations (445 cases,71 families) were detected from 1998 to 2014.Among them,28.2％ mutations were R555W which induced granular corneal dystrophy type Ⅰ (GCD Ⅰ),23.9％ mutations were R124H related to granular corneal dystrophy type Ⅱ (GCD Ⅱ),and 5％ mutations were reltaed to Thiel-Behnke corneal dystrophy. Key words: corneal dystrophy ;  TGFBI;  gene ;  phenotype