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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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Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
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Association Between Myopic Refractive Error and Primary Open-Angle Glaucoma: A 2-Sample Mendelian Randomization

Hélène Choquet1, Anthony P Khawaja2, Chen Jiang1

  • 1Division of Research, Kaiser Permanente Northern California, Oakland.

JAMA Ophthalmology
|July 28, 2022
PubMed
Summary
This summary is machine-generated.

Myopic refractive error (RE) is linked to increased primary open-angle glaucoma (POAG) risk, suggesting a shared genetic basis. This finding supports using RE information for POAG screening and risk stratification in populations.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Epidemiology

Background:

  • Refractive error (RE) is a common visual impairment.
  • Myopic RE is associated with a higher risk of primary open-angle glaucoma (POAG).
  • The causal relationship between RE and POAG etiology is not fully understood.

Purpose of the Study:

  • To investigate the association between myopic RE and POAG risk.
  • To evaluate shared genetic influences between RE and POAG.
  • To assess potential causal effects of RE on POAG.

Main Methods:

  • Observational analyses of RE (MSE, myopia) and POAG risk in the GERA cohort.
  • Genome-wide genetic correlation analyses using GWAS data for RE and POAG.
  • Two-sample Mendelian randomization to assess causal effects between MSE RE and POAG.

Main Results:

  • Individuals with POAG had lower refractive MSE and higher rates of myopia and high myopia.
  • Significant genetic correlations were found between POAG and MSE RE, myopia, and high myopia.
  • Genetically determined refractive MSE was negatively associated with POAG risk (OR per diopter more hyperopic MSE = 0.94, P = .01).

Conclusions:

  • Findings demonstrate a shared genetic basis between myopic RE and POAG risk.
  • The study supports an association between myopic RE and POAG.
  • Results may inform population-based POAG risk stratification and screening using refractive error information.