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Related Concept Videos

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In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
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Related Experiment Video

Updated: Jun 24, 2026

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
07:11

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential

Published on: May 25, 2020

Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma.

Bao Jian Fan1, Dan Yi Wang, Ching-Yu Cheng

  • 1Department of Ophthalmology & Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.

Molecular Vision
|April 7, 2009
PubMed
Summary

WDR36 gene variants are linked to high-tension primary open-angle glaucoma (POAG) in Chinese patients. This study found specific WDR36 SNPs and haplotypes associated with HTG, but not with normal-tension or juvenile-onset POAG.

Related Experiment Videos

Last Updated: Jun 24, 2026

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
07:11

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential

Published on: May 25, 2020

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness worldwide.
  • Genetic factors play a significant role in the pathogenesis of POAG.
  • The WD repeat domain 36 (WDR36) gene has been implicated in POAG in various ethnic groups.

Purpose of the Study:

  • To investigate the distribution and association of WDR36 sequence variants in Chinese patients diagnosed with POAG.
  • To identify potential genetic markers for different subtypes of POAG, including high-tension glaucoma (HTG), normal-tension glaucoma (NTG), and juvenile-onset POAG (JOAG).

Main Methods:

  • Sequencing of all 23 coding exons and splicing junctions of the WDR36 gene in 135 unrelated POAG patients and 77 unrelated controls.
  • Analysis of single nucleotide polymorphisms (SNPs) and haplotype associations using PLINK software.
  • Statistical analysis including Odds Ratio (OR) and Bonferroni correction for multiple comparisons.

Main Results:

  • Nineteen WDR36 sequence alterations were identified, including two novel nonsynonymous SNPs (L240V and I713V).
  • The novel I713V mutation was found in 3.7% of HTG patients.
  • A significant association was observed between the intronic SNP IVS5+30C>T (rs10038177) and HTG (Bonferroni corrected p=1.5 x 10(-5)).
  • The haplotype GTA (rs13153937, rs10038177, rs11241095) was significantly associated with HTG (Bonferroni corrected p=0.013).
  • No significant associations were found between WDR36 variants and NTG or JOAG.

Conclusions:

  • WDR36 gene variants are associated with sporadic high-tension primary open-angle glaucoma in the Chinese population.
  • WDR36 is not significantly associated with normal-tension or juvenile-onset POAG in this cohort.
  • The mutation pattern of WDR36 in Chinese POAG patients differs from that observed in other ethnic populations, suggesting ethnic-specific genetic contributions to POAG.