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Stargardt's Disease

Drusen

Drusen are a sign of both Stargardt's disease in children and macular degeneration in adults, and can only be detected during an eye exam.

Stargardt’s disease is one of many eye disorders that affect children and young adults. Stargardt’s disease is the inherited form of macular degeneration, and is also known as juvenile macular degeneration.

Stargardt’s disease causes loss of central vision at a young age, because it involves the deteriorating of light sensitive cells on the macula (the part of the eye that is responsible for central vision). This disease is usually diagnosed when there are drusen (small, yellowish spots) on the retina. In most cases, the disease can eventually lead to blindness.

Where Does It Come From?

Stargardt’s develops when both parents give a child a mutated gene associated with vitamin A processing in the eye. Because this is a recessive gene, the parents may not have Stargardt’s, but are just a carrier for the disease.

About 5% of the world population are carriers for some sort of recessive retinal disease like Stargardt’s and retinitis pigmentosa.

stargardt's vision

Central vision loss is a symptom of Stargardt's progression.

How Fast Is the Progression of Stargardt’s Disease?

Within the first 20 years of life, vision loss starts to occur. It’s hard to identify exactly when damage to the retina happens or how quickly it progresses. This is due to variations in the disease, even compared to family members who have the same inherited disease.

A study which was published in the American Journal of Ophthalmology in May 2006 talked about the significant case of 3 siblings, 2 of whom demonstrated retinal disease signs during their early childhood, whereas the youngest sibling didn’t started having signs of Stargardt’s until age 19. In some cases, an individual with Stargardt’s may notice the first signs of the problem during middle adulthood.

Furthermore, the Ophthalmology reference book also noted that loss of vision from the disease as measured by the Snellen’s eye chart can be noted between 20/50 to 20/200.

The most common symptoms of Stargardt’s disease involve distorted and blurry vision, incapability to look at objects in low light, and face recognition difficulty. Color vision loss is evident in the later stages of the disease.

How can Stargardt’s be Treated or Prevented?

Research indicates that exposure to bright light can play a role in setting off damage in the retina that occurs with Stargardt’s disease. There is no known treatment yet for this disease today, but people with this condition are often asked to use sufficient eye protection from UV rays as a precaution.

seeing eye dog

Stargardt's can eventually lead to blindness.

Advanced Cell Technology, located in Marlborough, MA, was granted orphan drug designation for stem cell treatment in 2010. The research has been conducted in rats, and Robert Lanza, chief scientific officer, said that “in rats, we’ve seen 100 percent improvement in visual performance over untreated animals without any adverse effects. Our studies showed that the [human embryonic stem] cells were capable of extensive rescue of photoreceptors in animals that otherwise would have gone blind.” Human clinical trials are expected to begin shortly.

Moreover, if a person has Stargardt’s disease, vitamin A supplements should not be taken. Since the gene mutation that causes Stargardt’s is associated with faulty vitamin A processing in the eyes, supplements can bring further damage to the retina.

Dealing With Stargardt’s Disease?

Coping with any eye disease or eye disorder can be a daunting part of anyone’s life. It entails emotional, physical, social, and even financial changes. It is highly recommended by the American Macular Degeneration foundation that those with Stargardt’s disease or a history of such in the family should have genetic counseling prior to deciding on having their very own families.

Because loss of vision often occurs among young children with Stargardt’s, counseling from an eye doctor is necessary to ensure that academic life is not hindered and  learning is minimally affected.  VRXend

 
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