Glaucoma is one of the most prevalent diseases of the optic nerve and can cause blindness (figure 1). It can occur age-related, but in the case of genetically caused glaucoma, it can also occur in earlier stages in life. Early detection of glaucoma is important to prevent the loss of the optic nerve fibers and, lastly blindness.
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Figure 1: Proportion of the most common causes of blindness among new blindness cases (modified).1
What Is Glaucoma?
Our eyes process pictures from the environment by bundling the incident light in the retina and transmitting the information through the optic nerve to the brain. To do this, the light must pass through the cornea, the anterior chamber of the eye, the pupil, the lens, and the vitreous body to the retina.
Figure 2: Structure of the human eye. Left: healthy eye, right: increased intraocular pressure in glaucoma.
The vitreous body consists of a clear, gel-like substance and gives the eye its shape. The so-called aqueous fluid inside the eye supplies it with nutrients and affects the intraocular pressure. The aqueous fluid is constantly being rebuilt. If it cannot drain properly, the intraocular pressure increases and the optic nerve can be damaged (figure 2). This is one of the causes of glaucoma.
Glaucoma is one of the most common causes of blindness worldwide. The degeneration of nerve cells in the optic nerve leads to irreversible visual field loss and ultimately to blindness. Risk factors include e.g., increased intraocular pressure, diabetes, chronic eye inflammation and cardiovascular disease. Around 5% of glaucoma are based on inherited genetic changes, which can lead to the onset of the disease at an earlier stage in life.
Field Report
Nina B., 37 years old
Lifestyle: athletic, adventurous
Result: with our preventive diagnostics for Nina B., we identified an increased risk for glaucoma through a variant in the gene MYOC.
Consequence: Nina B. now has regular eye examinations. For example, her intraocular pressure and the back of her eye are examined in order to prevent visual field defects and maintain her vision.
“I have a genetic predisposition to glaucoma. That is why I now visit the ophthalmologist at regular intervals to have the condition of my eyes checked and, if necessary, to be able to intervene at an early stage.”
How Does Genetic Risk Assessment Work?
In the Glaucoma module, NGS is used to investigate two genes that are responsible for the occurrence of glaucoma.
If an increased risk of glaucoma is detected with the Disease Prevention Panel, appropriate early detection programs can provide the opportunity for timely treatment in the event of the disease. Early detection of glaucoma leads to a more favorable prognosis, as the development of the disease can be slowed down or even stopped with appropriate therapy.
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References
1 Finger, R. P., Bertram, B., Wolfram, C. & Holz, F. G. Blindness and visual impairment in Germany: a slight fall in prevalence. Deutsches Arzteblatt international 109, 484–489; 10.3238/arztebl.2012.0484 (2012).