Are you or your child having vision problems? Learn about Stargardt Disease!

Do you or your child have a problem where you can't see things straight ahead, or your vision is getting blurry? Maybe you can see things around you, but what you're looking at is not clear. If you have symptoms like these, one possible cause is a condition called Stargardt Disease . Let's talk about this in a simple way that you can understand.

What is Stargardt Disease?

Simply put, Stargardt's disease is a condition that affects the most important part of our eyes , the `macula` . Think of it this way: if your eye is like a camera, the `retina` is the membrane at the back of the camera, like the film, where images are recorded. The `macula` is a very sensitive little spot right in the middle of the `retina`. When we look straight ahead, when we read a book, when we look at someone's face, it is this `macula` that helps us see things clearly. We call this `central vision` .

When you have Stargardt Disease, your ``central vision`` gradually decreases over time. Sometimes, this can also affect your ``peripheral vision``, which is the ability to see things around your eyes.

You've probably heard of macular degeneration . It's a disease that usually affects older people, especially those over 60. It's called age-related macular degeneration . However, Stargardt disease is different. It usually affects children and young people under 20. That's why doctors sometimes call it juvenile macular degeneration . When it affects the edges of the retina, it's called fundus flavimaculatus .

Now let's see why this happens. Our bodies have a yellow, oily substance called `lipofuscin` . Normally, this is excreted from the body. However, in a person with Stargardt Disease, this `lipofuscin` is produced in excess or is not excreted properly. Then this extra `lipofuscin` accumulates in the `retina`. This causes damage to the ` photoreceptors`, a special type of light-sensitive cell in the `retina` . Over time, this damage causes permanent vision loss.

What are the symptoms of Stargardt Disease?

Stargardt Disease can cause the following changes in your eyes and vision:

• Seeing dark spots or blurry areas in vision:When you look straight ahead, some places may appear black or foggy.
• Blurred vision : Seeing things clearly, blurred vision.
• Light sensitivity: Feeling of difficulty seeing in sunlight or bright lights.
• New color blindness : Even though you used to see colors clearly, you are now unable to distinguish some colors properly.
• Difficulty adjusting to low/high light: When suddenly going from a bright place to a dark place, or when coming from a dark place to a bright place, it takes a long time for the eyes to adjust.
• Poor night vision : Night vision becomes less than before.

The important thing is that the symptoms of Stargardt Disease often develop gradually. Over time, you may lose almost all of your central vision. However, you may still be able to see some distance out of the sides of your eyes (peripheral vision). However, things that are straight ahead will become less clear.

What are the causes of Stargardt Disease?

Stargardt Disease is a ``genetic condition`` . That is, it is caused by a change in our genes. Specifically, the main cause is a change in a gene called ``ABCA4 gene.`` This ``ABCA4 gene`` helps our `` retina`` to function properly.

This is `hereditary` . That means it is passed down from parents to children. Stargardt Disease is inherited in an `autosomal recessive pattern` . Simply put, for a child to develop this disease, both the mother and father must have this altered `ABCA4 gene`. It is not enough for just one person to have it.

How do doctors diagnose this? (Diagnosis)

An eye doctor can determine if you have this disease. He or she will examine your eyes , check your vision, and check the health of your eyes. You will need to tell the doctor when your symptoms started and what problems you are having.

You may also need to do some tests like these:

• Electroretinography (ERG): This looks at how your retina responds to light entering your eye.
• Fluorescein angiography: This is a test to see the blood vessels inside the eye.Look, they inject a special dye into a vein in your arm and take pictures of the inside of your eye.
• Fundus photography and fundus autofluorescent photography: This takes clear pictures of your retina and macula. This allows you to see how the lipofuscin is deposited.
• Genetic testing : This can confirm whether there is a mutation in the ABCA4 gene.
• Optical coherence tomography (OCT): This is like a scan of the retina. It can look at things like the thickness of the layers of the retina, whether lipofuscin is present, and whether it is damaged.

What are the stages of Stargardt Disease?

Your eye doctor may divide the disease into several stages, depending on how it progresses. Here's how:

• Stage 1: At this stage, a yellow substance called lipofuscin begins to form as small flecks on the macula. You may have very mild symptoms, or no symptoms at all.
• Stage 2: Now those `lipofuscin` spots have spread to other areas of the `retina` around the `macula.` By now you may be starting to feel the symptoms a little more clearly than before.
• Stage 3: At this stage, the accumulated `lipofuscin` particles start to accumulate in the `macula` again and start to damage the `macula`. This is called `atrophy` ( cell death). This makes the symptoms worse.
• Stage 4: The damage (atrophy) to the macula is now very severe. This can lead to a complete or partial loss of your central vision.

What are the treatments for Stargardt Disease?

Unfortunately, there is currently no cure for Stargardt Disease or any treatment that can reverse the damage it causes. But don't worry. Your eye doctor can help you manage your symptoms and slow down the rate of vision loss. You can do things like:

• Avoid taking supplements containing vitamin A. Some studies have shown that people with Stargardt Disease may experience accelerated vision loss if they take too much vitamin A. Therefore, do not take any vitamin A supplements without talking to your doctor.
• Using glasses, contact lenses and/or low vision aids can greatly help you with your daily activities.
• Quit smoking (and other nicotine-containing products like vaping) completely. Smoking is not good for your eyes at all.
• Wear a hat or a good pair of sunglasses to protect your eyes when you go outside.

Remember, these are not cures. However, they can help you live well for as long as possible.

Can Stargardt Disease be cured?

There is currently no cure for Stargardt Disease. However, your eye doctor can help you live with the condition.

There is good news. Researchers are continuing to conduct clinical trials to find new treatments for conditions like macular degeneration (including Stargardt Disease). Ask your eye doctor if you can participate in one of these clinical trials. If so, you may have the opportunity to receive the latest, experimental treatments.

When should I seek medical advice?

See a doctor or ophthalmologist as soon as you notice any changes in your eyes or vision. The symptoms of Stargardt Disease can be similar to those of other, perhaps more common, eye diseases. Therefore, it is very important to diagnose and treat any eye problems as soon as possible .

What can you expect if you have Stargardt Disease?

You should expect to lose your central vision gradually. For most people, this loss occurs slowly, over years, sometimes decades. However, for some people, it can happen more quickly. The type of mutation in your ABCA4 gene may determine how quickly and how much vision you lose. Your eye doctor will tell you more about this.

You will need to have regular eye exams. Ask your doctor how often you should have your eyes checked and what additional tests you should have.

How do I take care of myself with Stargardt Disease?

There are many things you can do to take care of yourself:

• Eat a nutritious diet. Eat more vegetables and fruits.
• Exercise. Keeping your body active is good for everything.
• Do not smoke.
• Control stress.
• Go to your doctor's appointments on time.

When should I see my doctor if I have Stargardt Disease?

Your eye doctor will tell you to keep seeing them. Be sure to go on those days. Also, if you have any sudden changes in your vision, or if you feel any pain or discomfort in your eyes, see your doctor immediately.

What questions should I ask my doctor about Stargardt Disease?

If you have Stargardt Disease, you may want to ask your doctor questions like these:

• Can you suggest a support group for me with others who are in this situation?
• Am I eligible to participate in a `clinical trial' ?
• Should I talk to a genetic counselor ? (This can help you find out if other people in your family are at risk.)
• Can you suggest any tools or methods that can help me perform daily tasks more easily with low vision ?

Finally, things to remember (Take-Home Message)

Living with Stargardt Disease can be scary. Anything that affects your vision can have a big impact on you. But you're not alone. Your eye doctor and healthcare team can help you adapt to your vision changes, protect your eyes, and live a safe and comfortable life.

Although there is currently no cure for Stargardt Disease, researchers are constantly looking for new treatments. If you are interested, talk to your doctor about taking part in a clinical trial. Don't give up!

` Stargardt Disease, Eyesight, Central Vision, Retina, Macula, Genetic Diseases