Figure 5. Family with variant lattice corneal dystrophy (novel mutation R542P). A, B: An 87-year-old female (proband), relatively thick lattice lines (white arrow) that extended from limbus to limbus in the
superficial and deep stromal layers. C: A 55-year-old male (daughter of proband), lattice lines discrete in the superficial stroma of the central cornea. D, E: Histopathology (proband, 40× and 100×, respectively), Congo red-positive deposits in almost an entire corneal stroma layer.
F: DNA sequence analysis of the TGFBI gene (upper) and a heterozygous point mutation, CCC→CGC (c.1625 C>G: Pro542Arg in exon 12) in codon 542 (bottom). G: Pedigree, heterozygous P542R mutation in the proband and her two daughters.