Corpus ID: 5262234

Novel Gene Mutations Causing Primary Congenital Glaucoma

  title={Novel Gene Mutations Causing Primary Congenital Glaucoma},
  author={S. Feizi},
  journal={Journal of Ophthalmic & Vision Research},
  pages={142 - 142}
  • S. Feizi
  • Published 2010
  • Medicine
  • Journal of Ophthalmic & Vision Research
  • P r i m a r y c o n g e n i t a l g l a u c o m a ( P C G ) i s characterized by an anatomical defect in the trabecular meshwork (trabeculodysgenesis) and onset in the neonatal or infantile period, generally before the age of 3 years. The developmental anomaly in the anterior chamber angle manifests by increased intraocular pressure, corneal edema, excessive tearing, photophobia, enlargement of the globe (buphthalmos) and corneal opacification. It is the most severe form of glaucoma, having… CONTINUE READING


    Null mutations in LTBP2 cause primary congenital glaucoma.
    • 220
    CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
    • 62
    • PDF
    Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2 , LTBP 2 , cause primary congenital glaucoma
    • Hum Mol Genet
    • 2009
    Null mutations in LTBP 2 cause primary congenital glaucoma
    • Am J Hum Genet
    • 2009