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Open-Angle Glaucoma, Genetic Testing

Open-angle glaucoma is a progressive eye condition characterized by increased intraocular pressure, leading to optic nerve damage and possible vision loss. It often develops slowly and may not cause noticeable symptoms until the late stages. Treatment involves lowering intraocular pressure through medications, laser therapy, or surgery. The assessment of the Polygenic Risk Score for open-angle glaucoma is based on the examination of 63 gene polymorphisms.

Genetic testing for open-angle glaucoma is included along with 12 other diseases in the Genetic Screening for Sensory Organs and Skin Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

As its name indicates, the drainage angle of the intraocular aqueous humor formed by the cornea and the iris remains open in open-angle glaucoma. Still, the drainage system is partially blocked, which causes the ocular pressure to increase gradually and the optic nerve to be damaged. In addition to family history, the following factors would condition an increased risk of developing open-angle glaucoma:

  • Presenting a previous disorder of elevated intraocular pressure
  • Age: the risk increases with age, especially after 60 years of age
  • African-American, Asian, or Hispanic ancestry has been associated with an increased risk of glaucoma
  • Certain diseases, such as diabetes, heart disease, or high blood pressure
  • Particular eye characteristics, such as thin corneas in the center
  • Eye diseases such as extreme nearsightedness or farsightedness, history of previous eye injury, or certain types of eye surgery
  • Corticosteroid medications over a long period, especially eye drops

In the initial stages, it is not associated with symptoms, does not cause pain, and vision remains normal. However, if left untreated, progressive lateral or peripheral vision loss begins in irregular blind spots. Over time, as the pathology progresses, central (forward) vision will also be affected in the form of tunnel vision, decreasing until it is completely lost. This may affect one or both eyes. Intraocular pressure may be normal or high, but it is almost always higher in the eye with the more advanced optic nerve lesion.


Early detection of glaucoma can prevent vision loss or slow the rate of progression. Therefore, the following guidelines are recommended:

  • Visit an ophthalmologist from age 40 at least once a year to control intraocular pressure and perform a detailed examination of the optic nerve
  • Regular, moderate physical activity can reduce eye pressure and help prevent glaucoma
  • Use appropriate eye protection when required in both occupational and leisure settings. Severe eye injuries can promote the development of glaucoma
Additional information
Results Time4 - 5 Weeks
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