Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype

Ophthalmic Genet. 2014 Sep;35(3):187-9. doi: 10.3109/13816810.2013.804096. Epub 2013 Jun 14.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aniridia / diagnosis
  • Aniridia / genetics*
  • Child, Preschool
  • Consanguinity
  • Corneal Diseases / diagnosis
  • Corneal Diseases / genetics*
  • Cytochrome P-450 CYP1B1 / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Hydrophthalmos / diagnosis
  • Hydrophthalmos / genetics*
  • Male
  • Pedigree
  • Phenotype

Substances

  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1