A novel mutation c.1640T > G (p.Phe574Cys) in exon 12 of the TGFBI gene was detected in one single patient with recurrent granular intrastromal deposits comparable to a type of granular dystrophy.
Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.
The presence of excessive beta ig-h3 in human corneas with GCD together with reported mutations in the beta ig-h3 gene in GCD suggests that the mutated gene product is a fundamental constituent of the characteristic corneal accumulations in GCD.
CDB I is clinically characterized by confluent geographic opacities at the level of Bowman's layer, histopathologically by bandshaped granular Masson-positive subepithelial deposits, and ultrastructurally by the presence of "rod-shaped bodies" and may be a superficial variant of granular dystrophy.