title: Different recurrence patterns after phototherapeutic keratectomy in the corneal dystrophy resulting from homozygous and heterozygous R124H BIG-H3 mutation.
abstract: OBJECTIVE
  To report the recurrence pattern of corneal deposits after phototherapeutic keratectomy in patients with corneal dystrophies resulting from homozygous and heterozygous Arg124His (R124H) mutation of the BIG-H3 gene.
  
  
  METHODS
  Slit-lamp examination was performed on patients with corneal dystrophy resulting from a genetically confirmed BIG-H3 R124H mutation.
  
  
  RESULTS
  The recurrence of corneal deposits after phototherapeutic keratectomy in patient with heterozygous R124H mutation was mild; the granular opacities occurred as spot lesions in the central cornea. The patient with a homozygous mutation had a more severe pattern, and the recurrent lesions were diffuse and occurred in the periphery between the corneal epithelium and laser-ablated stroma. The recurrence-free interval in homozygous patients was shorter.
  
  
  CONCLUSIONS
  The mutation genotype of BIG-H3 gene determines the recurrence pattern after phototherapeutic keratectomy.
authors.affiliation: Department of Ophthalmology, Osaka University Medical School, Suita, Osaka, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: H
authors.initials: H
authors.lastname: Watanabe
authors.forename: S
authors.initials: S
authors.lastname: Yamamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Inoue
authors.forename: M
authors.initials: M
authors.lastname: Okada
authors.forename: Y
authors.initials: Y
authors.lastname: Hori
authors.forename: N
authors.initials: N
authors.lastname: Maeda
authors.forename: Y
authors.initials: Y
authors.lastname: Inoue
authors.forename: K
authors.initials: K
authors.lastname: Hayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Shimomura
authors.forename: Y
authors.initials: Y
authors.lastname: Tano
mesh_terms: D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D003318:Corneal Opacity / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D054018:Lasers, Excimer; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D018903:Photorefractive Keratectomy / Q000009:adverse effects*; D017354:Point Mutation; D012008:Recurrence; D016212:Transforming Growth Factor beta; D014792:Visual Acuity; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein