Novel L558P mutation of the TGFBI gene found in Ukrainian families with atypical corneal dystrophy.

Purpose: To report a novel L558P mutation of the human transforming growth factor beta-induced (TGFBI) gene found in Ukrainian families with atypical corneal dystrophy (CD).

Methods: Genomic DNA was extracted from peripheral leukocytes of 12 members of 4 unrelated families with atypical CD. We performed genotype analysis of these families with microsatellite markers surrounding the TGFBI locus.