title: A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene.
abstract: 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. 1580T>G (p.L527R), in the transforming growth factor-β-induced TGFBI gene. We also found two additional SNP mutations, c.1620T>C (p.F540F) and c.1678+23G>A, along with the well-known L527R mutation. This is the first report of lattice corneal dystrophy type IV with an L527R mutation outside of Japan, and could challenge the idea that L527R is caused by a mutation from a single Japanese ancestor.
authors: Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.
authors: Jinsun
authors: J
authors: Kim
authors: Department of Clinical Diagnosis, Yonsei University College of Medicine, Seoul, Korea.
authors: Kyung A
authors: KA
authors: Lee
authors: Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea. ; Corneal Dystrophy Research Institute, Yonsei University, Seoul, Korea.
authors: Eung Kweon
authors: EK
authors: Kim
authors: Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea. ; Corneal Dystrophy Research Institute, Yonsei University, Seoul, Korea.
authors: Hyung Keun
authors: HK
authors: Lee
mesh_terms: D000369:Aged, 80 and over; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics* / Q000378:metabolism; D000099222:betaIG-H3 Protein
chemical_list: D004247:DNA; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein
keywords: Hereditary corneal dystrophies; Transforming growth factor beta