An Overview of Stargardt's Disease

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Stargardt’s disease is the most common form of juvenile macular degeneration, affecting one in 10,000 children in the United States. Named for Karl Stargardt, a German ophthalmologist, the disease affects both eyes and develops sometime between the ages of 6 and 20. In Stargardt’s disease, there is a genetic defect that causes the photoreceptors of the eye to die. Vision loss begins slowly and then rapidly progresses, affecting central vision so severely that it causes an affected person to become legally blind while preserving peripheral vision. Stargardt's disease is also called Stargardt macular dystrophy, juvenile macular degeneration, or fundus flavimaculatus.

Symptoms

Stargardt's disease affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision.

The symptoms of Stargardt's are much like those of age-related macular degeneration (ARMD). The first symptom is decreased vision, with the following symptoms possibly following:

  • Difficulty seeing in dim light
  • Decreased sharp vision and close vision
  • Loss of peripheral (side) vision
  • Poor color vision
  • Detecting small blind spots
  • Blurred and distorted vision
  • Decreased dark adaption
  • Light sensitivity

The most common symptom of Stargardt's disease is the gradual loss of central vision in both eyes.

Different people will progress through the symptoms of the disease at different rates. Some people tend to have more rapid vision loss. Others may lose vision slowly at first, then worsen rapidly as it levels off. Most people with Stargardt's disease eventually reach 20/200 vision, or worse.

Causes

Stargardt's disease usually occurs from an inherited recessive gene, meaning both parents carry the gene. In most cases, it is caused by mutations in the ABCA4 gene.

If each parent carries the gene, their children have a 25% chance of inheriting the gene from each parent.

Since two genes are required to cause Stargardt's disease, parents may not have it themselves.

The ABCA4 gene contains a protein that clears away vitamin A byproducts inside the photoreceptors of the eyes. In cells that lack the protein, clumps of lipofuscin build up, forming yellow clumps in the retina.

As the clumps of lipofuscin increase close to the macula, central vision becomes impaired. Eventually, photoreceptors die and vision becomes further impaired.

Diagnosis

An eye care professional may be able to diagnose Stargardt's disease after a complete examination of the retina. Yellow spots in the retina, or lipofuscin deposits, can often be identified in the macula. The yellowish flecks appear in various shapes and sizes, usually in a ring-like pattern.

An eye doctor will use a variety of eye and vision tests to make a positive diagnosis of Stargardt's disease. The following tests are helpful in assessing symptoms:

  • Visual field testing: This is a measure of your central vision and is the most critical part of your vision. However, that is only one a measure of your visual function. Another aspect is your overall visual field, sometimes referred to as peripheral vision. Although many people mistake it as simply a peripheral vision test, a visual field test is actually designed to measure the overall field of vision as it is interpreted by the brain in four neurological quadrants.
  • Color testing: Loss of color vision is associated with Stargardt's disease. The most common test for diagnosing color blindness is the Ishihara test. This quick and simple test consists of a series of pictures made up of colored dots. Among the dots is a figure, usually a number, made up of dots of a different color. A person with normal color vision will be able to see the number, but a color-blind person will see a different number or no number at all.
  • Fundus photography: The word “fundus” is used to describe the inside or back of the eye. A photo of the fundus shows the center of the very back of the eye, or the retina. The optic nerve, macula, and main retinal blood vessels can all be seen in a typical fundus photo. Yellow spots, or lipofuscin, can be easily imaged with fundus photography, for earlier Stargardt's disease diagnosis.
  • Optical coherence tomography (OCT): OCT is a noninvasive imaging technology used to obtain high-resolution cross-sectional images of the retina. OCT is similar to ultrasound testing, except that imaging is performed by measuring light rather than sound. OCT measures the retinal nerve fiber layer thickness in glaucoma and other diseases of the optic nerve.
  • Electroretinography (ERG): ERG is an eye test used to detect function of the retina, the light-detecting portion of the eye. The retina is comprised of layers of cells and photoreceptors, known as rods and cones. This test measures the electrical response of the light-sensitive cells in the eyes.

Treatment

No effective treatment for Stargardt disease exists. However, bone marrow stem cell injections may be used as a therapy in the future.

If there appears to be blood vessel leakage or proliferation, the condition is often treated with intraocular injections, much like the treatments used to treat the "wet" variety of ARMD.

Research has found that nutrition and UVA/UVB eye protection may slow the progression of this disease.

As vision begins to worsen, visual aids can be used to maximize the use of peripheral vision. Researchers have also discovered that vitamin A in excess can have harmful effects on the eyes of people with Stargardt's disease and supplementation should be avoided.

Coping

If you are faced with the challenges of a Stargardt's disease diagnosis, several services and devices are available to help.

Low vision aids can help people carry out daily activities and tasks, including handheld lenses, reading machines, and video magnification devices. All of these aids are geared toward maintaining independence.

Many people with Stargardt's disease become visually disabled by their early 20s. The emotional impact of the disability can be highly emotional, impacting important aspects of life including employment and social life. Because of the great amount of support needed, counseling and occupational therapies tend to be part of the treatment plan.

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  1. Genetic and Rare Diseases Information Center. Stargardt disease. Updated June 4, 2014.

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