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Angle Closure Glaucoma: Treatment01:28

Angle Closure Glaucoma: Treatment

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Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
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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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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: Aug 28, 2025

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
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Truncation mutations in MYRF underlie primary angle closure glaucoma.

Jiamin Ouyang1, Wenmin Sun1, Huangxuan Shen1

  • 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.

Human Genetics
|September 21, 2022
PubMed
Summary
This summary is machine-generated.

Mutations in the MYRF gene are linked to high hyperopia and primary angle-closure glaucoma (PACG). MYRF interacts with DNMT3A, offering insights into PACG pathogenesis and potential therapeutic targets.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Mutations in the myelin regulatory factor (MYRF) gene are linked to autosomal dominant high hyperopia.
  • A potential association exists between MYRF mutations and primary angle-closure glaucoma (PACG), a leading cause of irreversible blindness.
  • The precise causal link between MYRF mutations and PACG pathogenesis is not yet fully understood.

Purpose of the Study:

  • To investigate the causal link between MYRF mutations and the pathogenesis of primary angle-closure glaucoma (PACG).
  • To confirm the association of MYRF mutations with PACG in a cohort of patients with hyperopia.
  • To elucidate the molecular mechanisms underlying MYRF-associated PACG.

Main Methods:

  • Identification of MYRF mutations in probands with hyperopia and glaucoma.
  • Immunofluorescence microscopy to determine MYRF expression patterns in human and mouse ocular tissues.
  • Phenotypic analysis of Myrf-mutant mice, including intraocular pressure (IOP) measurement and retinal cell counting.
  • Transcriptome sequencing and DNA methylation sequencing in Myrf-mutant retinas.
  • Co-immunoprecipitation assays to assess the interaction between MYRF and DNMT3A.

Main Results:

  • Six truncation mutations in MYRF, including five novel ones, were identified in seven probands.
  • All six adult probands with glaucoma confirmed the association between MYRF mutations and PACG.
  • MYRF is enriched in the ciliary body and ganglion cell layer.
  • Myrf-mutant mice exhibited elevated IOP, reduced retinal ganglion cells, and a thinner retinal nerve fiber layer.
  • Transcriptome sequencing revealed downregulation of Dnmt3a in Myrf-mutant retinas, with co-immunoprecipitation confirming a physical interaction between MYRF and DNMT3A.
  • DNA methylation sequencing identified glaucoma-related cellular events in Myrf-mutant retinas.

Conclusions:

  • The study confirms a strong association between MYRF mutations and PACG.
  • The interaction between MYRF and DNMT3A plays a crucial role in the pathogenesis of MYRF-associated PACG.
  • This interaction provides novel insights into PACG pathogenesis and suggests potential therapeutic targets.