title: [Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene].
abstract: OBJECTIVE
  To report a case of lattice corneal dystrophy (LCD) with Asn544Ser (N544S) mutation of the transforming growth factor beta-induced (TGFBI) gene.
  
  
  METHODS
  A 68-year-old male patient with late-onset, sporadic LCD without corneal erosion. Amyloid deposits showing dot and lattice lines were seen in the mid to deep stroma. After obtaining appropriate informed consent, genomic DNA was amplified by polymerase chain reaction (PCR) and directly sequenced.
  
  
  RESULTS
  A heterozygous single base pair transition (AAT --> AGT), resulting in substitution of serine for asparagine at codon 544 of the TGFBI gene, was detected.
  
  
  CONCLUSIONS
  The case was classified as atypical type IV because of the late onset, lack of corneal erosion, and amyloid deposits in the mid to deep stroma.
authors.affiliation: Department of Ophthalmology, Juntendo Tokyo Koto Geriatric Medical Center, Japan.
authors.forename: Shoko
authors.initials: S
authors.lastname: Nakagawa Asahina
authors.forename: Keiko
authors.initials: K
authors.lastname: Fujiki
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Enomoto
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000368:Aged; D003062:Codon / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D003062:Codon; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein