title: Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments.
abstract: OBJECTIVE
  The aim of this study was to report a lattice corneal dystrophy (LCD) family with a novel mutation of A620P in the TGFBI gene, its long-term treatment, follow-up data, and related pathologic findings.
  
  
  METHODS
  A total of 28 family members were clinically examined, and blood samples or buccal epithelial cells were taken for DNA analysis. All exons from the entire TGFBI gene coding region were analyzed for mutations in 3 affected members. Exon 14 was amplified in other family members and in 100 normal Korean persons as control. Corneal tissues from 1 affected family member were examined using light and electron microscopy.
  
  
  RESULTS
  Clinical examination revealed relatively late-onset LCD with asymmetric progression and recurrent corneal erosion. The affected family members have been treated with penetrating keratoplasty, deep lamellar keratoplasty, and phototherapeutic keratectomy for up to 19 years. Screening of the TGFBI gene revealed a novel A620P mutation, which was found in all affected members. The amyloid origin of deposits was confirmed by Congo red and was also partially stained with Masson trichrome. Although there were no electron-dense bodies as in granular dystrophy, transmission electron microscopy demonstrated that the stromal deposits were not homogenous and contained a variety of constituents with different electron densities.
  
  
  CONCLUSIONS
  We present the characteristics and surgical treatment of corneas with a novel A620P mutation in TGFBI showing LCD type IIIA with hyaline component.
authors.affiliation: *Department of Ophthalmology, Severance Hospital, Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea; †Department of Systems Biology, Yonsei University College of Life Science and Biotechnology, Seoul, Korea; and ‡Institute of Vision Research, Severance Biomedical Science Institute, Brain Korea 21 Plus Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Ji Won
authors.initials: JW
authors.lastname: Jung
authors.forename: Sang Ah
authors.initials: SA
authors.lastname: Kim
authors.forename: Eun Min
authors.initials: EM
authors.lastname: Kang
authors.forename: Tae-Im
authors.initials: TI
authors.lastname: Kim
authors.forename: Hyun-Soo
authors.initials: HS
authors.lastname: Cho
authors.forename: Eung Kweon
authors.initials: EK
authors.lastname: Kim
mesh_terms: D000328:Adult; D003062:Codon / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000601:surgery; D016039:Corneal Transplantation; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D006801:Humans; D007124:Immunoenzyme Techniques; D015948:Keratoplasty, Penetrating; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D018903:Photorefractive Keratectomy; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology; D000099222:betaIG-H3 Protein
chemical_list: D003062:Codon; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein