A Case of Lattice Corneal Dystrophy due to the L527R Mutation in the TGFBI Gene in Korea

Abstract

AbstractPurpose The purposes of this study are to report the first case of LCD type Ⅳ with different phenotype in each eye.Methods A 67‐year‐old Korean female patient who was otherwise in good medical health presented with gradual impairment of vision over the previous 1 year. After informed consent was given, slit lamp biomicroscopy and genetic analysis were performed. All the exons from the entire coding regions of stromal corneal dystrophy related genes, TGFBI, CHST6 and M1S1 genes, were directly sequenced to determine if there were any mutations.Results Relatively thick lattice lines that extended from limbus to limbus in the superficial stromal layers were observed in the right eye by slit lamp biomicroscopy, whereas gray‐colored nodular deposits deep in the central stroma were observed in the left eye. We could not find lattice lines in the left eye or any nodular deposits in the right eye. We detected a heterozygous point mutation, CTG  CGG (c.1580 T>G: Leu527Arg in exon 12 by IC3D classification) in codon 527 of TGFBI.Conclusion Given that we identified a Korean patient with lattice corneal dystrophy due to the L527R Mutation in the TGFBI Gene, although this mutation is very rare, LCD type Ⅳ may occur in individuals of races other than Japanese.