Have you or your child started to notice a slight change in the way you see things straight ahead, a blurring of vision? Or perhaps an eye doctor has told you or someone in your family about this name 'Best disease'? This is actually a rare, but genetic condition that can affect both eyes. So today, let's talk in simple terms about what this Best disease is, how it develops, what are the symptoms, and whether there is a treatment.
What is this Best disease?
Simply put, Best's disease is a genetic condition that affects the retina of your eyes. Our eyes are like a camera. The retina is the layer at the back of the eye that helps us recognize images when light hits it. The part of the retina that is in the middle of the retina that helps us see things straight ahead is called the macula. So, in Best's disease, the macula gradually weakens. This can make it difficult to see things straight ahead, such as letters and people's faces, clearly. But most of the time , peripheral vision, or seeing things around you, is not affected much.
This Best disease is called by other names. Sometimes doctors may also call it `vitelliform macular dystrophy` or `vitelliform dystrophy`. `Dystrophy` is a medical term for the deterioration or weakening of a certain organ.
There is another condition like this, which is also a type of `vitelliform macular dystrophy`. However, it does not start in childhood, but rather develops as you get older, usually between the ages of 40 and 60. It is called the `adult-onset type`.
How common is Best disease?
It's hard to find exact statistics on how many people actually have Best's disease. Some people don't even know they have it because they don't have symptoms. One study says that about one in 16,500 people, or about one in 21,000, may have it. Another survey says that about one in 15,000 . Another says that it may be one in 10,000 . However, we can understand that this is a relatively rare disease .
What are the stages of Best disease?
This Best disease can go through six main stages. Let's see what they are.
1. Stage I - Previtelliform stage:
This is the very beginning. Most of the time, you won't have any symptoms at this point. A yellow substance hasn't even started to build up under your retina. It may be discovered incidentally during an eye exam.
2. Stage II - Vitelliform stage:
The word `vitelliform` means ``egg-shaped.`` At this stage, a yellow substance begins to accumulate under your retina, in the area of the ``macula``, the center of your vision. Think of it as looking like a small yellow egg. Your vision may still be good at this stage.
3. Stage III - Pseudohypopyon stage:
At this stage, the yellow substance can become fluid and form a cyst under the retina. This is like a small fluid-filled blister inside the eye.
4. Stage IV - Vitelliruptive stage:
This is where the yellow material that used to accumulate begins to break down and disperse. As this material breaks down, the cells in the retina can be damaged. At this point, you may start to notice changes in your vision, such as blurred vision.
5. Stage V - Atrophic stage:
At this stage, the yellow substance is almost completely gone. But scars and damaged cells remain where it was. This damage can further impair vision. Some researchers consider this to be the final stage of Best's disease.
6. Stage VI - Choroidal neovascularization (CNV):
Some researchers consider this condition called `CNV` to be the final stage of Best disease. Others think it is a complication of the disease. About 20% of people with Best disease may develop this condition. `Neovascularization` is the formation of new blood vessels. `Choroid` is the membrane between the `retina` and the `sclera` of the eye. In this `CNV` condition, new, weak blood vessels form in the `choroid` layer. These new blood vessels are so weak that they can leak blood or fluid. If this happens, your vision can get worse.
What are the symptoms of Best disease?
Most of the time, you'll only find out about Best's disease after an eye exam, because sometimes there are no visible symptoms. But if symptoms do appear, they may include:
- Blurred vision: Things that are seen straight ahead may appear unclear or blurry.
- Problems with straight vision: The problem is seeing things directly in front of you. But you may have good all-around, or side vision.
- Metamorphopsia: Imagine that you are looking at a straight line, but it appears to you as a wavy, drawn line. Things like doorknobs and window frames may appear drawn. This is called metamorphopsia.
- Severe vision loss: Some people may experience significant vision loss over time.
- Difference in vision between the two eyes: The vision in one eye may be less than the other. Or the vision in both eyes may not decrease equally, but may decrease to different degrees.
What is the cause of Best disease?
Best's disease is caused by a genetic condition. Simply put, it is caused by a change in the genes we inherit from our parents.
Best's disease is an ``autosomal dominant'' condition. This is a bit of a medical term, but it's easy to understand. ``Autosomal dominant'' means that a child doesn't have to inherit the altered gene from both parents, just one. That means that if either parent has the altered gene, their children have about a 50% chance of developing the disease. It's like flipping a coin and getting heads.
Surprisingly, the same gene that causes Best's disease also causes some forms of another inherited eye disease called retinitis pigmentosa. This means that variations in this gene can cause a variety of eye diseases.
How is Best disease diagnosed?
Most of the time, a doctor will diagnose Best's disease when you are between the ages of five and ten, or at most when you are 20 years old.
When you visit an eye care specialist for an eye problem, he or she will first ask you about your medical history, ask if anyone in your family has eye problems, and then perform an eye exam. In addition, some specialized tests may be done. For example:
- Fluorescein angiography: This is an imaging test. A special dye is injected into a vein in your arm and pictures are taken of the blood vessels inside your eye. This can help to see if there are any leaks or abnormalities in the blood vessels.
- Optical coherence tomography (OCT): This is also a noninvasive imaging test. It uses light beams to take cross-sectional images of the back of your eye, specifically the retina and the macula. It's like cutting a cake and looking inside. It can detect things like the thickness of the layers of the retina, any swelling, and fluid buildup.
- Color fundus photography: This takes clear pictures of your retina, its associated blood vessels, and the optic nerve head. This can help you see if there is any yellow egg-like deposits.
- Ophthalmic electrophysiology: This is actually a series of tests. These tests measure the subtle electrical activity that occurs when our eyes respond to light. This can give an idea of how well the cells in the retina are working.
- Genetic tests: These tests can confirm with certainty whether you have any changes in your genes that are related to Best disease.
Sometimes the doctor may want to talk to other members of your family or even examine their eyes, as this is a hereditary condition.
How is Best disease treated?
To this day, there is no cure for Best's disease. That is the first thing we need to understand.
Best manages the disease based on your symptoms and the stage of the disease. Once diagnosed, it is essential that you have regular eye exams. Only then can you quickly identify any changes in your eyes and take the necessary measures.
In the early stages, you may not need any treatment. However, if you have other refractive errors, such as farsightedness, you may need to use glasses. People with Best's disease often have problems with distance vision. Also, if you develop cataracts, you may need to have cataract surgery.
But if you have the condition we talked about earlier called choroidal neovascularization (CNV), which is the formation of new weak blood vessels, your doctor may suggest treatments like these to stop the growth of those new blood vessels:
- Anti-vascular endothelial growth factor (Anti-VEGF) agents: These are actually medications. These drugs are injected into the vitreous cavity inside your eye. The goal is to stop the growth of those new, leaky blood vessels and shrink them.
- Laser therapy: This treatment uses laser beams to seal off or destroy the abnormal blood vessels.
- Photodynamic therapy (PDT): This is a slightly more complex treatment. Here, a special drug is injected into your body, then the drug is made light-sensitive, and a laser beam is directed at the affected blood vessels, damaging them and stopping them from leaking blood.
In addition, your doctor may suggest that you use low vision aids, such as magnifying devices, special lighting, and easy-to-read software.
Researchers are already investigating whether genetic material can be used to treat or prevent the disease. Gene therapy is still in the research stage, but it is hoped that it will yield successful results in the future.
Can the risk of developing Best disease be reduced?
Honestly, there's nothing you can do to prevent Best's disease. It's a genetic condition. But if someone in your family has Best's disease, or if you find out you have it, it may be important to get genetic counseling before you have children. A genetic counselor can look at your family history and explain the risk of your children inheriting the disease.
What happens if I have Best disease?
Best's disease is not a fatal disease. That means it is not life-threatening. But, as mentioned earlier, it is not curable. You will not go completely blind from Best's disease. But you may have low vision. That means it may be a little difficult to do everyday tasks, but you will not lose your sight completely.
How do I take care of myself?
There are some foods that are good for eye health.
"A good diet is very important for the eyes."
For example, eating fish a few days a week, and adding green vegetables, fruits, and nuts to your diet are good for your eyes. These provide eye-friendly nutrients like omega-3 fatty acids and vitamins.
If you have Best's disease, it is important to have regular medical checkups, especially eye exams. If you notice any changes in your vision or general health, tell your doctor right away. You can also ask your doctor questions like:
- " Can you recommend a genetic counselor to help me decide whether to have children?"
- "Am I eligible to participate in a clinical trial for this disease?"
- " Can you recommend an optometrist who specializes in low vision?"
- " Is gene therapy a treatment option for me?"
What is the difference between Best disease and Stargardt disease?
Stargardt disease and Best disease are both genetic diseases, and both affect the center of vision in the eye (the macula). This means that straight-ahead vision is affected.
But these two diseases are caused by changes in different genes.
In Stargardt disease, you can see yellow or white flecks on your retina. But in Best disease, you can see a large, yellow, egg-yolk-like oval-shaped cyst under the macula. So, these two diseases can be distinguished by these symptoms and genetic testing.
Living with a vision-threatening condition can be challenging. But if you have Best's disease, there are many resources and services that can help make things easier. Ask your doctor about them.
Finally, things to remember
Okay, so we've talked a lot about Best disease. Let's recap:
- Best's disease is a hereditary condition that affects the center of vision in the eye (the macula). This can lead to impaired vision.
- Although it cannot be completely cured, it is not life-threatening. Low vision may occur, but complete blindness does not occur.
- It is very important to diagnose the disease early and undergo regular medical tests.
- There are treatments for complications like `CNV`.
- Genetic counseling is something that can be important for those planning a family.
- Eating foods that are good for the eyes and using low vision aids can make life easier.
Remember, you are not alone. There are doctors, counselors, and techniques that can help you live with these conditions. The most important thing is to stay strong and follow the necessary instructions. If you have any questions or doubts, talk openly with your doctor.
` Best disease, Best disease, eye diseases, visual center, macula, genetic diseases, vision loss, eye exams
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