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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
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Advances in glaucoma genetics.

Yoichi Sakurada1, Fumihiko Mabuchi1

  • 1Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.

Progress in Brain Research
|October 27, 2015
PubMed
Summary
This summary is machine-generated.

Genetic factors contribute to glaucoma, a leading cause of blindness. Studies identify specific genes linked to primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG), aiding risk assessment and treatment strategies.

Keywords:
Candidate gene approachFamilial linkage analysisGenome-wide association studyPrimary angle-closure glaucomaPrimary open-angle glaucoma

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neuroscience

Background:

  • Glaucoma is a progressive neurodegenerative disease and a major cause of irreversible blindness globally.
  • It presents mainly as primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG).
  • Genetic and environmental factors are implicated in its complex etiology.

Purpose of the Study:

  • To review identified causative and susceptibility genes for POAG and PACG.
  • To highlight the expression of these genes in ocular tissues.
  • To emphasize the potential of genetic studies for understanding glaucoma mechanisms and developing therapeutic strategies.

Main Methods:

  • Review of familial linkage studies for POAG.
  • Analysis of genome-wide association studies (GWAS) for POAG and PACG.
  • Examination of gene expression data in ocular tissues.

Main Results:

  • Familial studies identified causative genes for POAG (e.g., MYOC, OPTN, WDR36).
  • GWAS revealed numerous susceptibility gene variants for POAG (e.g., CDKN2BAS, CAV1/CAV2, ATOH7) and PACG (e.g., PLEKHA7, COL11A1 PCMTD1-ST18).
  • These genes are expressed in critical ocular tissues like retinal ganglion cells and the trabecular meshwork.

Conclusions:

  • Genetic variations play a significant role in the pathogenesis of POAG and PACG.
  • Further functional analysis of identified genes is crucial for elucidating glaucoma mechanisms.
  • Genetic insights hold promise for personalized risk assessment and novel therapeutic interventions for glaucoma.