Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA

Ophthalmic Genet. 2014 Dec;35(4):252-4. doi: 10.3109/13816810.2013.811272. Epub 2013 Jul 8.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Count
  • Codon, Nonsense*
  • Cornea / abnormalities*
  • Corneal Diseases / diagnosis
  • Corneal Diseases / genetics*
  • Endothelium, Corneal / pathology*
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / genetics*
  • Female
  • Humans
  • Hyperopia
  • Middle Aged
  • Mutation, Missense*
  • Proteoglycans / genetics*

Substances

  • Codon, Nonsense
  • KERA protein, human
  • Proteoglycans

Supplementary concepts

  • Cornea Plana 2