Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient

Abstract

Our study expands the spectrum of pathogenic mutations associated with LCD and although we cannot show segregation of c.1673T G in TGFBI within the family, it is likely that the change identified is pathogenic and this is supported by prediction algorithms,conservation of the affected residue across multiple species, and an absence in variant databases.

Keywords

• lattice corneal dystrophy
• histopathology
• amyloid
• TGFBI
• novel mutation