Recent advances in molecular genetics of glaucoma

Mol Cell Biochem. 2003 Nov;253(1-2):223-31. doi: 10.1023/a:1026059800470.


Glaucoma represents a heterogeneous group of optic neuropathies, with different genetic bases. It can affect all ages generally with a rise in intra-ocular pressure. Three major types of glaucoma have been reported: primary open angle glaucoma (POAG), primary acute closed angle glaucoma (PACG) and primary congenital glaucoma (PCG), as well as a few others associated with developmental abnormalities. In recent years impressive progress has been made in the molecular genetic studies of POAG and PCG. These include the discovery of three genes--Myocilin, Optineurin and CYP1B1--defects in which results in Mendelian transmission of glaucoma. Identification of single nucleotide polymorphisms in multiple other genes that are associated with glaucoma and alteration of drug sensitivity are enriching our knowledge regarding the complex nature of the disease. This review attempts to present the recent progress made in the molecular genetics of glaucoma.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aryl Hydrocarbon Hydroxylases / metabolism*
  • Cytochrome P-450 CYP1B1
  • Cytoskeletal Proteins
  • Eye / metabolism*
  • Eye Proteins / metabolism*
  • Genome, Human
  • Glaucoma / etiology
  • Glaucoma / genetics*
  • Glaucoma / metabolism
  • Glycoproteins / metabolism*
  • Humans
  • Polymorphism, Single Nucleotide


  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • trabecular meshwork-induced glucocorticoid response protein
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1