In our study H626R (exon 14), A546T, T538R (exon 12) mutations of the TGFBI gene were analyzed using polymerase chain reaction followed by restriction digestion in 52 individuals from 22 unrelated families with different forms of lattice corneal dystrophy. H626R mutation was detected in patients from 12/17 families with late onset lattice corneal dystrophies and in 6 unaffected individuals. Interestingly, T538R and H626R mutations, associated with late onset of lattice corneal dystrophy, were found in two patients with preliminary clinical diagnosis of lattice corneal dystrophy (type I) with early onset of disease. A546T mutation was not detected in our patients. The possible properties of mutant tgfbi protein and its involvement in pathogenesis are discussed. The results show that TGFBI gene mutation analysis is important for differential diagnosis of corneal dystrophies with prognostic and therapeutic implications and for genetic consulting in high risk families.
Keywords: corneal dystrophy, TGFBI gene, Mutation analysis
