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Glaucoma and genetics
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Section 1: Intro
Chapter 34, Glaucoma and genetics. Specifically, it is about open-angled glaucoma, which is an eye disease. This is a training for the Glaucoma Sensor genetic test. You will find this test here in the layout of the product. Here you can see it is meant for prevention or early diagnosis. If you already have Glaucoma, the test is not going to be beneficial anymore. It is only for people who do not have it yet. I would recommend it.
Section 2: The disease
Alright. Here you see a cross-section of an eye. The normal process is that blood vessels supply the cells within the eye with oxygen and nutrients that the cells require to survive. These are light-sensitive cells that help you see. Also, in the back of the eye, the eye continuously produces clear fluid that keeps the eye inflated like a water balloon. This fluid travels through the eye and then it exits through channels at the front of the eye. It is always produced and it always exits by managing how much is produced and how much exits the eye. The eye can be completely inflated all the time without having too low or too high pressure. This channel through which the fluid leaves the eye is controlled by the LOXL1 gene.
When it has a genetic variation, this gene can influence the gate and cause the following problem: the eye keeps producing liquid but it cannot leave the eye as sufficiently as it could but the eye continues to produce more liquid. This then starts to accumulate and increases pressure. There is blood pressure which presses the blood into the eye to make sure that the cells get the nutrients and oxygen. Now, inside the eye, the pressure increases and works against blood pressure. Eventually, blood is forced out of the eye and then the cells began to die. It starts in the outside and goes progressively further inward. Then, a lot of cells start to die off. It is increased intraocular pressure. The cells die. As the cells die from the outside, the external field of vision becomes more restricted just like you see here in these images. So, you lose more and more of your vision around while the vision in the center of the eye is unaffected. It is kind of like the opposite of macular degeneration in case you have seen this training. The brain is quite good in balancing out any kinds of vision loss that you might experience because you might miss this corner up here but the other eye can see it so your brain just interprets the image into it. So, it usually takes very long for you to actually realize that you have restricted vision.
Section 3: The Glaucoma test
Once you see you have the first symptoms, up to 95 % of all light-sensitive cells in the eye have already died and they will not come back. This is permanent loss of vision. It is a pity because there are very effective drugs, eye drops, that can open these channels and help you prevent the disease. If you go to a doctor, he measures the signs for Glaucoma and detects it. It is very easy to treat. However, 60 to 70 % of people do not go to eye doctors often enough. Therefore, this genetic test can raise awareness specially of people with increased risk.
So, what can a genetic test tell us? For one, it can tell us about the genetic risk. You might have a low genetic risk or 1 fold risk, a medium risk, twice as high or a high risk when all of the genetic variations come together, 11 fold risk. This person has 11 fold higher risk or a high likelihood of developing the disease than a person being in the low area. Now, let us compare two people with different genetic outcomes. As I said, around 60 % of the population do not go to eye check-ups. When doing a genetic test, a person who has a 1 fold risk would be recommended to go to regular eye examinations.
There is not just Glaucoma, but there are other diseases that should be detected, that is why it is important to go to eye check-ups. If a person has 11 fold risk due to high risk of genetics, we would recommend earlier, more regular and more precise eye examinations. So, there are a number of tests that a doctor can do not just eye pressure. Also, if you know that your risk of developing the disease is 11 than that of most of the other people, we find that it rally motivates people to have their eyes checked up because they know this is more important for them than for anybody else. So, this rate of 60 % who do not go to eye check-ups is really going down in people who know that they have an increased risk. Then, when the disease occurs, there is a very effective treatment with eye drops. These can protect the sight of people with a high increased risk. This here is the genetic basis of it. In case you are interested and you do not know what this means, there is the training of the simple disease risk statistics which would explain it to you.
This is the result of a person. A T/T genotype means every gene has a T on it in this position. 2 % have no increased risk of Glaucoma. They have actually have a kind of protection. Most of them have an increased risk. So, having a high risk in this field is not unlikely, which also means that most people who develop it will have a very high risk than people with a low genetic risk who are very unlikely to develop it at all. Here, you will see this bar. You have the arrow showing where you are located. For people who are here, we would recommend normal eye check-ups. If the arrow is here, it is very important for this person to go to regular eye check-ups because the odds are this person belongs to the 60% who do not go to eye check-ups. It is very important for them much more than for the other people who have a lower genetic risk.
This is the end of chapter 34, Glaucoma and genetics, as a training for the Glaucoma Sensor.