title: [Kerato-epithelin mutation (R 555 Q) in a case of Reis-Bücklers corneal dystrophy].
abstract: BACKGROUND
  Mutations in the kerato-epithelin gene on chromosome 5 q 31 are known to cause four distinct autosomal dominant diseases of the human cornea: Reis-Bücklers, granular, lattice, and Avellino corneal dystrophy. Mutation of arginin to glutamine in codon 555 (R 555 Q) in kerato-epithelin was recently reported in four blood-related patients with Reis-Bücklers corneal dystrophy.
  
  
  METHODS
  A 42 year-old female has had photophobia with decreasing vision since the age of 20 years. Her corrected visual acuity was 0.5 in both eyes. She showed subepithelial opacities in both corneas characteristic of Reis-Bücklers corneal dystrophy.
  
  
  METHODS
  The DNA was extracted from leukocytes according to standard protocols. The keratoepithelin gene was examined for a mutation by the polymerase chain reaction (PCR) and direct sequencing.
  
  
  RESULTS
  We identified kerato-epithelin mutation R 555 Q. The patient's two children and 50 controls did not show missense mutation.
  
  
  CONCLUSIONS
  Kerato-epithelin mutation R 555 Q was present in a Japanese patient with Reis-Bücklers corneal dystrophy.
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: A
authors.initials: A
authors.lastname: Murakami
authors.forename: S
authors.initials: S
authors.lastname: Okisaka
mesh_terms: D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein