A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene.

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An 87 -year -old woman visited our clinic for a scheduled cataract surgery . At the time of preoperative evaluation , slit lamp examination showed lattice-shaped and granular deposits with asymmetrical patterns in the stroma of both corneas . Genomic DNA samples of the patient , amplified by polymerase chain reaction , showed a single nucleotide substitution , c . 1580 T >G (p .L 527 R ), in the transforming growth factor -β-induced TGFBI gene . We also found two additional SNP mutations , c .1620 T >C (p .F 5 40 F ) and c .1678 +23 G >A , along with the well-known L 527 R mutation . This is the first report of lattice corneal dystrophy type IV with an L 527 R mutation outside of Japan , and could challenge the idea that L 527 R is caused by a mutation from a single Japanese ancestor .