Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene

Arch Ophthalmol. 2006 Apr;124(4):589-93. doi: 10.1001/archopht.124.4.589.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Child, Preschool
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / pathology
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Humans
  • Male
  • Mutation*
  • Polymorphism, Single Nucleotide*
  • Transforming Growth Factor beta / genetics*

Substances

  • Extracellular Matrix Proteins
  • Transforming Growth Factor beta
  • betaIG-H3 protein