Genetic basis of glaucoma

Curr Opin Ophthalmol. 2002 Apr;13(2):55-60. doi: 10.1097/00055735-200204000-00001.


The application of molecular genetic techniques to the study of glaucoma has accelerated greatly during the past few years. In addition to localizing and identifying genes for specific types of glaucoma, researchers have begun to characterize the gene products and investigate molecular mechanisms involved in glaucoma. Much research has been focused on the gene expression, protein processing, and mutations of MYOC/TIGR, which is associated with both juvenile-and adult-onset primary open angle glaucoma. Investigations of other glaucoma-related genes, such as PITX2, FOXC1, and CYP1B1, are enabling a better understanding of anterior segment development and its relation to glaucoma.

Publication types

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

MeSH terms

  • Aryl Hydrocarbon Hydroxylases*
  • Cytochrome P-450 CYP1B1
  • Cytochrome P-450 Enzyme System / genetics
  • Cytoskeletal Proteins
  • DNA-Binding Proteins*
  • Eye Proteins / genetics
  • Forkhead Transcription Factors
  • Genetic Techniques
  • Glaucoma / genetics*
  • Glycoproteins / genetics
  • Homeobox Protein PITX2
  • Homeodomain Proteins / genetics
  • Humans
  • Molecular Biology
  • Nuclear Proteins*
  • Transcription Factors / genetics


  • Cytoskeletal Proteins
  • DNA-Binding Proteins
  • Eye Proteins
  • FOXC1 protein, human
  • Forkhead Transcription Factors
  • Glycoproteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • Transcription Factors
  • trabecular meshwork-induced glucocorticoid response protein
  • Cytochrome P-450 Enzyme System
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1