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Most people associate macular degeneration with aging, but there is an inherited form of the disorder called Stargardt's disease that appears in early childhood or adolescence. If the eye doctor suspects that your child has this form of juvenile macular degeneration, this is what you should know:
What is Stargardt's disease?
Stargardt's disease is an inherited visual disorder that affects one in every 8,000-10,000 people. While different causes are possible, it is often the result of a mutation in the ABCA4 gene that causes a specific protein in the eye to fail to develop properly. That protein is responsible for clearing a fatty substance called lipofuscin from the macula. Without it, the lipofuscin gradually builds up, photoreceptors die, and your child's central vision becomes impaired.
Around 95% of children with Stargardt's disease have parents who are both asymptomatic "carriers" of the recessive gene at fault. When both parents have the same recessive genetic mutation, the odds of having a child with the disease is 1 in 4. Since neither parent has the actual disorder (and likely has no reason to know that they are carriers of the diseases), the diagnosis can be a devastating shock.
What are the symptoms of Stargardt's disease?
Some children develop symptoms early in childhood, but others may not develop symptoms until adolescence or even later. Your child's eye doctor may be able to spot early signs of the symptoms through visual detection of the yellowish spots of lipofuscin in and around the macula. There are a few other early symptoms:
There is no cure for the disease and almost everyone who has it eventually meets the legal definition of blindness, which is a visual acuity of 20/200 or less. To a person with 20/200 vision, an object 20 feet away is as indistinct and hard to see as an object 200 feet away is to a person with perfect vision.
What treatments are available for Stargardt's disease?
Right now, most of the treatment for Stargardt's disease is experimental in nature and includes things like gene therapy and stem cell research. The focus of treatment for most children affected by the disorder is on maximizing their ability to function through the use of visual aids like large print books, eReaders, and special adaptive computer programs for the legally blind.
Your child may also benefit from the services of a low-vision rehabilitation specialist. They can help work with your child's school to find the best visual aids for use in classroom settings. They can also help your child learn tricks to compensate for his or her poor vision.
For more information, talk to your child's vision specialist. The faster your child begins to utilize available services and devices, the faster he or she can adapt to having low vision. One place you can have your child's vision checked is New Vision Eye Center.Share