Stargardt Disease is genetic
Stargardt Disease is a genetic disease that was first discovered by German ophthalmologist Karl Stargardt in 1909. It usually shows up in childhood, but not always with severe symptoms. It is caused by an inherited, recessive mutations in the ABCA4 gene. The ABCA4 gene is located on chromosome 1, and is one of the largest, and most complex genes. It is also the gene that is responsible for transporting retinal protein. Stargardt Disease causes lipofuscin to accumulate at a much faster rate resulting in the death of photoreceptors in the retina. If light can’t get in due to the death of these photoreceptors, vision is lost.
Lipofuscin are pigmented lipids or fat cells that accumulate around the nucleus in cells of the liver, spleen, retina…. In small amounts they are not harmful, but beneficial. In large amounts however they cause the death of these cells. With Stargardt Disease they accumulate in the retinal pigmented epithelium, in large amounts and kill off the photoreceptor cells, causing center vision loss. In those not suffering from Stargardt Disease these lipofuscin provide nourishment to the cells.
How do you know if you have Stargardt Disease?
So, how do you know if you have Stargardt Disease or something else? Only 1 in every 10,000 people have, and exhibit symptoms of this disease. They only way to know for sure you have it is to run genetic testing on the ABCA4 gene to see if it has the Stargardt mutation. The retina specialist can give you a preliminary diagnosis with scans of your eyes.
You can see the yellowish-white specks in the back of the eye. This is evidence of the lipofuscin build-up in the retinal pigmented epithelium. The dark lines are the dead photoreceptor cells. This is the cause of the vision loss he is experiencing in his right eye. No light can get into his eye without these photoreceptors. He will forever have a dark spot in the center of his vision. Once the cells are dead there is no way to bring them back.
What can we do?
So, what can we do for Noah? As of right now we only have a preliminary diagnosis. We are waiting for genetic testing. Unfortunately this takes a long time to complete, and even with a formal diagnoses there isn’t much, or really anything that can be done. The formal diagnosis is more for our information at this point. It would also open up a possibility for treatment later on if one becomes available. With this being a mutation in the ABCA4 gene, which is large and complex, there is very limited technology for treating any mutations in it.
We are going forward with monitoring every 3 to 6 months, and a healthy diet full of whole foods known for their positive effects on the retina. I am still in the beginning stages of figuring this all out, and do not have a ton of answers or direction as of yet. Hopefully with time, research, and a whole lot of the grace of God, I will be able to figure out how to best help my son.
As a mother I want only the best for my kids. It is hard wen hard times befall them. I am immensely thankful for my relationship with the God who created them, and the knowledge that he loves them more than I ever could. He created Noah and his eyes, and he can heal them if he chooses to do so. He can also give grace and wisdom to overcome the obstacles we are facing if he chooses not to heal him. God has already used this to bring us closer together as a family, and I am sure he will continue to show himself faithful throughout the rest of the ride.
Disclaimer
Disclaimer: None of these statements have been evaluated by the Food and Drug Administration. I am just an ordinary mom sharing with you the information I have found, and/or been told by my child’s doctor. Any statements about whole foods or any other plan we have are mine alone. I am still doing daily research, and hope to help my son as much as possible with what I am able to find.
