title: [Histopathological study of lattice corneal dystrophy with L 527 R mutation of transforming growth factor-beta induced gene].
abstract: OBJECTIVE
  A histopathological study of lattice corneal dystrophy with L 527 R mutation of exon 12 on transforming growth factor-beta induced gene(TGFBI).
  
  
  METHODS
  The patient was a 66-year-old woman with lattice corneal dystrophy. Gene analysis and histopathological study of corneal tissue obtained at the corneal transplantation were performed. Mutation analysis was done for exon 4, 11, and 12 on the TGFBI gene by direct sequencing. A histological study was performed by light microscopy with hematoxylin-eosin staining, dylon staining, or congo red staining, and by electron microscopy.
  
  
  RESULTS
  Gene analysis revealed L 527 R mutation of exon 12 on the TGFBI gene. Light microscopic examination showed dylon-positive and Congo red-positive amyloid deposit from the superficial to deep layer of the corneal stroma. In transmission electron microscopy, the corneal epithelial layer, the basement membrane of the epithelium, Descemet's membrane, and the corneal endothelium were normal, but irregularity of Bowman's membrane and amyloid fibers in the corneal stroma were observed.
  
  
  CONCLUSIONS
  Lattice corneal dystrophy due to L 527 R mutation showed histopathological findings similar to those of lattice corneal dystrophy type III.
authors.affiliation: Department of Ophthalmology, Nihon University, School of Medicine, 30-1 Oyaguchikami-machi, Itabashi-ku, Tokyo 173-8610, Japan.
authors.forename: Emiko
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Tooru
authors.initials: T
authors.lastname: Sakimoto
authors.forename: Noriko
authors.initials: N
authors.lastname: Inada
authors.forename: Jun
authors.initials: J
authors.lastname: Shoji
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Sawa
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Kanno
authors.forename: Shigeki
authors.initials: S
authors.lastname: Nakagawa
mesh_terms: D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology*; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein