title: The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients.
abstract: OBJECTIVE
  To identify the BIGH3 gene mutation in 10 unrelated Japanese individuals with granular corneal dystrophy.
  
  
  METHODS
  Genomic DNA was obtained from each patient's leukocytes. Exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction and were directly sequenced.
  
  
  RESULTS
  Nine of these patients were found to have the R124H mutation, whereas only one had the R555W mutation. Slit-lamp examination showed that the granular corneal dystrophy associated with each mutation is different.
  
  
  CONCLUSIONS
  These results, together with our previous findings, show that the classic form of granular corneal dystrophy associated with the R555W mutation is rare in Japanese patients, whereas granular corneal dystrophy accompanied by amyloid deposits and associated with the R124H mutation, Avellino corneal dystrophy, is more common. Direct examination may be insufficient in the proper diagnosis of corneal dystrophy, and BIGH3 mutation analysis may be required.
authors.affiliation: Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Konishi
authors.forename: Y
authors.initials: Y
authors.lastname: Mashima
authors.forename: M
authors.initials: M
authors.lastname: Yamada
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D007564:Japan; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein