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 preoperativeevaluation, slit lamp examination showed lattice-shaped and granular deposits with asymmetrical patterns inthe stroma of both corneas. Genomic DNA samples of the patient, amplified by polymerase chain reaction,showed a single nucleotide substitution, c. 1580T>G (p.L527R), in the transforming growth factor-β-inducedTGFBI gene. We also found two additional SNP mutations, c.1620T>C (p.F540F) and c.1678+23G>A, alongwith the well-known L527R mutation. This is the first report of lattice corneal dystrophy type IV with anL527R mutation outside of Japan, and could challenge the idea that L527R is caused by a mutation from asingle Japanese ancestor.
Abstract
An 87-year-old woman visited our clinic for a scheduled cataract surgery. At the time of preoperativeevaluation, slit lamp examination showed lattice-shaped and granular deposits with asymmetrical patterns inthe stroma of both corneas. Genomic DNA samples of the patient, amplified by polymerase chain reaction,showed a single nucleotide substitution, c. 1580T>G (p.L527R), in the transforming growth factor-β-inducedTGFBI gene. We also found two additional SNP mutations, c.1620T>C (p.F540F) and c.1678+23G>A, alongwith the well-known L527R mutation. This is the first report of lattice corneal dystrophy type IV with anL527R mutation outside of Japan, and could challenge the idea that L527R is caused by a mutation from asingle Japanese ancestor.
참고문헌 (5)
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- Chakravarthi SV, "TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients", Invest Ophthalmol Vis Sci, 46, pp.121~125 (2005)
- Fujiki K, "A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities", Hum Genet, 103, pp.286~289 (1998)
- Fukuoka H, "Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor", Invest Ophthalmol Vis Sci, 51, pp.4523~4530 (2010)