No Pathogenic Mutations Identified in the TGFBI Gene in Polymorphic Corneal Amyloid Deposition

Abstract

TGFBI gene mutations were not identified in a series of patients with polymorphic corneal amyloid deposition. As bilateral, discrete stromal amyloid deposits may be dystrophic or degenerative, differentiation between these phenotypically similar conditions is facilitated with the use of molecular genetic analysis.