Overview of the TGFBI corneal dystrophies

Abstract

AbstractSeveral phenotypically distinct clinicopathologic entities involving the cornea are caused by mutations in the transforming growth factor beta induced (TGFBI) gene. These disorders include different types of granular corneal dystrophy (GCD): GCD type 1, GCD type 2 (Avellino corneal dystrophy), GCD type 3 (Reis‐Bücklers corneal dystrophy) as well variants of lattice corneal dystrophy type 1 and Thiel‐Benhke corneal dystrophy. Investigations of these inherited corneal diseases throughout the world strongly suggest that specific mutations in the TGFBI gene account for the specific phenotypes and that the corneal opacities that account for the clinical features of the different phenotypes result from the deposition of all or part of the mutated encoded protein. To date the mutated protein is only known to accumulate in the cornea eventhough the TGFBI is widely expressed throughout the body in experimental animals. This presentation will provide an overview of the TGFBI corneal dystrophies and offer a hypothesis to explain the different phenotypes caused by different mutations in TGFBI.