Genetics and Gene Therapy of the TGFBI Corneal Dystrophies

Corneal dystrophies were first described in 1890 by Arthur Groenouw as noduli corneae in patients with granular and macular corneal dystrophies (Wittebol-Post et al. 1987). In 1899, Biber published findings on lattice corneal dystrophy (LCD) (Biber 1899). The phenotype and familial distribution were yet to be investigated. In 1917, Reis published findings on an unknown superficial dystrophy, while Thiel-Behnke investigated a honeycomb-patterned variant of superficial dystrophy. The literature at that time remained ambiguous as to whether these dystrophies were distinct (Küchle et al. 1995). In 1967, Klintworth determined that the lattice pattern in LCD was similar to that of amyloid fibrils and that they could be stained with congo red and thioflavin T. This study provided the first evidence that amyloid deposits were associated with corneal dystrophies and suggested that collagen degradation was a central characteristic of the disease (Klintworth 1967).