title: Characteristic features of granular deposit formation in granular corneal dystrophy type 2.
abstract: OBJECTIVE
  To describe the characteristic features of white granular deposits associated with granular corneal dystrophy type 2 (GCD2).
  
  
  METHODS
  Five patients with GCD2 associated with the R124H mutation (2 homozygous GCD2 and 3 heterozygotes) were examined. The corneal deposits of all patients were assessed and reviewed by slit-lamp photographs. Density line profiles of corneal surfaces were evaluated around the discrete corneal deposits using Image J software. A Fourier-domain optical coherence tomography with cornea anterior module was used to visualize the characteristic surrounding features of these granular deposits. A histopathological study of the homozygous corneal specimen obtained after keratoplasty was performed.
  
  
  RESULTS
  Slit-lamp images and densitometry line profiles showed that discrete granules were surrounded by relatively clear areas in all patients. The Fourier-domain optical coherence tomography image clearly showed highly reflective lesions, corresponding to the corneal deposits, surrounded by lower reflective areas. Histopathological study revealed comparable findings to the optical coherence tomography image. Serial comparison of slit-lamp photographs demonstrated a recurrence pattern after penetrating keratoplasty in a homozygous patient and natural progression in a heterozygote patient. They were similar in that diffuse fine granules gradually increased in density and discrete granular deposits also enlarged or were newly formed.
  
  
  CONCLUSIONS
  In GCD2, discrete white granular deposits were surrounded by rather lucid areas and fine granular haze. These findings suggest that white granular deposits may be formed by aggregation of surrounding fine granules.
authors.affiliation: Department of Ophthalmology, Soonchunhyang University College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Korea.
authors.forename: Sun Woong
authors.initials: SW
authors.lastname: Kim
authors.forename: Samin
authors.initials: S
authors.lastname: Hong
authors.forename: Terry
authors.initials: T
authors.lastname: Kim
authors.forename: Kyu Seo
authors.initials: KS
authors.lastname: Kim
authors.forename: Tae-im
authors.initials: TI
authors.lastname: Kim
authors.forename: Woo Suk
authors.initials: WS
authors.lastname: Chung
authors.forename: Eung Kweon
authors.initials: EK
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D003319:Corneal Stroma / Q000473:pathology*; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D005583:Fourier Analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015948:Keratoplasty, Penetrating; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D041623:Tomography, Optical Coherence; 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