Molecular genetics of open-angle glaucoma, moving from gene localization to predictive testing

Curr Opin Ophthalmol. 1997 Apr;8(2):13-8. doi: 10.1097/00055735-199704000-00004.

Abstract

It has long been suspected that genetic factors play a role in open-angle glaucoma. Only recently, however, has the molecular basis of such factors begun to be established, with the primary localization of the GLC1A locus for juvenile-onset and early-onset autosomal dominant open-angle glaucoma on chromosome 1q. These findings are clinically significant in that they allow familial screening of individuals at risk for glaucoma before the onset of irreversible visual impairment. A physical map of the GLC1A genomic region is now available, and the actual GLC1A gene might be identified in the near future. Nevertheless, open-angle glaucoma is a genetically heterogeneous entity, and additional loci have been mapped or proposed. Identification of open-angle glaucoma genes should provide invaluable clues to the disorder's pathophysiology. It could also aid in conceiving novel therapeutic agents and broadening the screening of at-risk subjects.

Publication types

  • Review

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 1 / genetics*
  • Eye Proteins / genetics
  • Genetic Markers
  • Genetic Testing
  • Glaucoma, Open-Angle / diagnosis
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Molecular Biology*
  • Pedigree
  • Predictive Value of Tests

Substances

  • Eye Proteins
  • Genetic Markers