The TIGR gene, pathogenic mechanisms, and other recent advances in glaucoma genetics

Curr Opin Ophthalmol. 1998 Apr;9(2):15-23. doi: 10.1097/00055735-199804000-00004.

Abstract

Important advances have been made within the past year in the area of glaucoma genetics, including the identification of the TIGR gene for adult as well as juvenile GLC1A glaucoma, a P450 gene for GLC3A congenital glaucoma, and a bicoidhomeobox transcription factor gene RIEG for developmental glaucoma. The cloning of TIGR as a candidate gene for glaucoma is based on its distinctive induction in human trabecular meshwork cells and tissues, its induction profile, and the expressed molecule's putative biologic properties. Results from several laboratories showing defects in the olfactomedin homology domain of the TIGR gene have generated particular interest concerning potential pathogenic mechanisms. Recent progress in glaucoma genetics has also included the identification of new loci in familial adult open-angle glaucoma, the identification of a locus associated with pigment dispersion syndrome, and the collection of new families for linkage analyses and clinical assessments. Taken together, these findings offer future prospects for improving diagnostic criteria, for understanding disease etiologies, and for developing improved therapeutic strategies.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aryl Hydrocarbon Hydroxylases*
  • Cloning, Molecular
  • Cytochrome P-450 CYP1B1
  • Cytochrome P-450 Enzyme System / genetics
  • Cytoskeletal Proteins
  • Eye Proteins / genetics*
  • Genetic Linkage
  • Glaucoma, Open-Angle / congenital
  • Glaucoma, Open-Angle / genetics*
  • Glaucoma, Open-Angle / pathology
  • Glycoproteins / genetics*
  • Homeodomain Proteins / genetics
  • Humans
  • Leucine Zippers / genetics*
  • Nuclear Proteins*
  • Paired Box Transcription Factors
  • Trabecular Meshwork / pathology
  • Transcription Factors / genetics

Substances

  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • Paired Box Transcription Factors
  • Transcription Factors
  • homeobox protein PITX1
  • homeobox protein PITX3
  • trabecular meshwork-induced glucocorticoid response protein
  • homeobox protein PITX2
  • Cytochrome P-450 Enzyme System
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1