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If I have AMD, will my child get Stargardt's Disease?

While macular degeneration is generally associated with aging eyes, it can be diagnosed in children and teenagers in rare cases. This occurrence is called Stargardt's Disease.

What is Stargardt's Disease?

Stargardt's disease is a form of macular degeneration known as juvenile macular degeneration. It causes progressive degeneration of the macular in children and young adults. 

According to Federation for Fighting Blindness, Stargardt disease is the most common form of inherited macular degeneration, affecting about 30,000 people in the U.S. The loss of vision is devastating to both children and adults, and significantly impacts their quality of life.

Just like age related macular degeneration, this juvenile macular degeneration has no cure and progressively worsens until the affected person loses their vision in both eyes. 

Stargardt’s disease destroys the photoreceptors in the eye, causing central vision in patients to be blurry. Patients report dark areas in the central vision as well. 

For age-related macular degeneration, having certain genes places people at a higher risk. But Stargardt’s disease is a rare disease caused by genetic inheritance from parents. One in every 10,000 children develops Stargardt’s disease. 

How Do People Get Stargardt’s Disease?

The simplest explanation is that people inherit the genes for Stargardt’s disease from both parents. How does this happen? 

A mutation of the ABCA4 gene is the most common cause of Stargardt’s disease. In fact, autosomal recessive mutations in the ABCA4 gene account for about 95% percent of Stargardt disease.  Less often, mutations in the ELOVL4 gene cause this condition. 

Each parent gives out one copy of their genes to make up the genes of their offspring. So, people with Stargardt’s disease would have inherited mutated ABCA4 genes from both parents. 

There are three ways this can happen:

  • If both parents have recessive mutated ABCA4 genes 
  • If both parents have Macular Degeneration
  • If one parent has recessive Stargardt’s disease genes and the other parent has Macular Degeneration

The first instance is most often the case, with both parents having recessive mutated ABCA4 genes. Since these genes are recessive, both parents may still have great eyesight, but they can pass the defective genes to their child. By taking two copies of the recessive defective gene from both parents, the child then possesses dominant Stargardt’s disease genes. 

In the second instance, both parents pass on their dominant defective genes to their children. And lastly, a child can inherit the recessive defective genes from one parent and the dominant Stargardt’s disease gene from the parent who has it. 

If I have AMD, will my child get Stargardt's Disease?  

Having AMD doesn’t mean that you’ll pass Stargardt’s disease on to your child. Your child can only get Stargardt’s disease if you and your partner have recessive defective ABCA4 genes.

However, it is best to do a genetic test with your partner. If neither you nor your partner possess the defective ABCA4 gene, none of your children will have Stargardt’s disease, even if you have AMD. 

If either of you has recessive ABCA4 genes, none of your children would have Stargardt’s disease, but some of them would inherit the recessive genes for it. In this case, get your children tested to know if they have the recessive genes or not. 

If Macular Degeneration or Stargardt's runs in either you or your partner's families, it's best to get yourselves and your children tested and to make regular appointments with your eye doctor. The earlier it is diagnosed, the sooner you can take action to slow down progression of the disease.

Stargardt’s has a dramatic impact on patients' lives and at this time there is no treatment available. However, gene and drug therapies are currently being studied.

The more we spread awareness on rare diseases such as Stargardt’s, the more we promote continued research!

Clients around the world who experience symptoms from macular degeneration and stargardt's have seen a drastic improvement in their visual acuity, contrast, and mobility with the help of our lamps!

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