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What is Stargardt disease?
Stargardt disease is a genetic condition caused by an alteration in a single gene. It affects the retina of the eye and causes progressive loss of the central vision. It is also known as fundus flavimaculatus, Stargardt macular dystrophy or juvenile macular degeneration.
The disease is caused by mutations in the ABCA4 gene, which provides instructions for making a protein called ATP-binding cassette transporter A4. This protein is involved in the transport of waste products out of the retinal cells in the eye. When the protein is defective, the waste products accumulate in the cells and can cause damage, leading to a progressive loss of vision.
Symptoms of Stargardt disease usually begin in childhood or adolescence and can include blurred or distorted vision, difficulty seeing in low light, and a loss of central vision.
There is currently no cure for Stargardt disease, but it's important to note that in the majority of cases some sight is retained, as it affects central vision only and not the peripheral vision. There are treatments that can help manage the symptoms and researchers are actively working on the development of new treatments for Stargardt disease.
"Stargardt disease affects about one in 10,000 people."
Symptoms of Stargardt disease
Symptoms of Stargardt disease usually start in childhood or adolescence, most commonly experiencing symptoms for the first time between the ages of 6 and 12. However, there is a late-onset form of Stargardt disease which can start after the age of 50.
The most common symptoms of Stargardt disease include:
Blurred or distorted vision
The person may see wavy or blurry lines instead of straight lines, or they may have difficulty recognising faces.
Loss of central vision
The person may have difficulty reading, driving, or performing other activities that require sharp, central vision.
Difficulty seeing in low light
The person may have difficulty adapting to low-light environments, such as at dusk or in a dimly lit room. They may also find it hard to adapt from a light to a dark place or vice versa.
Colour vision changes
The person may have difficulty distinguishing between certain colours or may see colours as faded or washed out.
Blind spots
The person may experience blind spots in their vision, especially in the central part of their visual field.
Photophobia
The person may be sensitive to bright lights, which can cause discomfort or pain.
It's important to note that the severity and progression of Stargardt disease can vary widely from person to person. Not everyone with the condition will experience all of these symptoms. If you or a loved one are experiencing any of these symptoms, it's important to see an optometrist or ophthalmologist for a comprehensive eye exam.
"Stargardt disease can cause severe problems with your central vision. Most people with the condition retain their peripheral vision."
Cause of Stargardt disease
Stargardt disease is caused by a tiny change or variation in one of our genes. It's a genetic condition which is inherited from one parent (dominant form) or both parents (recessive form).
In Stargardt disease, this variation in the gene leads to a build-up of a waste product known as lipofuscin. This build-up can eventually damage the cone cells in the macula, which leads to vision problems.
When genes are identified they are given names usually made up of numbers and letters. The genes associated with Stargardt are ABCA4, ELOVL4 and PROM1. The gene responsible for most cases of Stargardt disease is ABCA4.
How someone with Stargardt disease might view the world
Please note this is a simulation of Stargardt disease, based on the anecdotal experiences of people who have the condition. This image is not the experience of everyone with Stargardt disease and is for illustration purposes only.
Diagnosis of Stargardt disease
Stargardt disease is usually diagnosed through a comprehensive eye exam, which may include the following:
Visual acuity test
This test measures how well a person can see at various distances using an eye chart.
Dilated eye exam
The optometrist or opthalmologist will use eye drops to dilate the pupils, which allows them to examine the back of the eye, including the retina, for signs of Stargardt disease.
Fundus autofluorescence imaging
This test uses a special camera to take pictures of the retina, which can show areas of damage caused by Stargardt disease.
Electroretinogram (ERG)
This test measures the electrical activity of the retina in response to light, which can help diagnose Stargardt disease and other retinal diseases.
Genetic testing
Blood or saliva samples may be collected to test for mutations in the ABCA4 gene, which can confirm a diagnosis of Stargardt disease.
It's important to note that not all people with Stargardt disease will have visible changes on an eye exam, particularly in the early stages of the disease. In some cases, a diagnosis may be delayed until the disease has progressed to a point where changes are visible on an exam.
"The first gene mutation responsible for Stargardt disease was discovered in 1997. Since then others have been discovered."
Macular Disease Foundation, Australia
Treatment of Stargardt disease
There is currently no cure for Stargardt disease, but there are treatments available that can help manage the symptoms and slow down the progression of the disease. These treatments include:
Low vision aids
Devices such as magnifiers, telescopes, and special glasses can help people with Stargardt disease make the most of their remaining vision and perform daily activities.
Vitamins and supplements
Some studies have shown that taking high doses of certain vitamins and nutrients, such as vitamin A, vitamin E, and lutein, may help slow down the progression of Stargardt disease.
Gene therapy
Researchers are working on developing gene therapy treatments for Stargardt disease that involve delivering healthy copies of the ABCA4 gene to the retina.
Stem cell therapy
Another potential treatment being studied involves using stem cells to replace damaged retinal cells in people with Stargardt disease.
Clinical trials
There are ongoing clinical trials testing new treatments for Stargardt disease, including drugs that target specific proteins involved in the disease.
It's important for people with Stargardt disease to work closely with an optometrist, opthalmologist or a specialist in low vision to develop a treatment plan that meets their individual needs. They may also benefit from support groups and counselling to help cope with the emotional and psychological impact of Stargardt disease.
"It’s important to remember that in the vast majority of cases, patients with Stargardt disease do not lose all their sight."
Living with Stargardt disease
Living with Stargardt disease can be challenging, but there are many things that people with the condition can do to manage their symptoms and maintain their quality of life. Here are some tips for living with Stargardt disease:
Work with a low-vision specialist
A low vision specialist can help identify and recommend assistive devices and technologies to help people with Stargardt disease make the most of their remaining vision. These may include assistive technology.
Adjust the environment
Making simple modifications to the environment can help people with Stargardt disease navigate their surroundings more easily. These may include using bright lighting, painting walls in high-contrast colours, and reducing glare.
Stay active
Exercise and physical activity can help maintain overall health and well-being. It's important to choose activities that are safe and accessible, such as walking or swimming.
Stay connected
Social support from family, friends, and support groups can help people with Stargardt disease cope with the emotional and psychological impact of the condition. Joining a support group or online community can help people connect with others who understand what they are going through.
Stay informed
Keeping up-to-date with the latest research and treatment options for Stargardt disease can help people make informed decisions about their care and stay hopeful about the future.
Use assistive technology and other aids
Assistive technology, such as text-to-speech software or magnification software, can help make it easier to read and perform other tasks. Additionally, using large-print materials or wearing sunglasses can help reduce eye strain and improve vision.
Assistive technology, including screen magnifiers, screen readers and accessible book readers can help people with Stargardt disease navigate daily life in comfort. These tools can make it easier to read, write, study and use technology.
Whatever your experience is with computers, Dolphin assistive technology can help.
Maintain a healthy lifestyle
Eating a healthy diet, getting enough sleep, and managing stress can help people with Stargardt disease maintain their overall health and well-being.
It's important for people with Stargardt disease to work closely with their healthcare providers to develop a comprehensive care plan that meets their individual needs.
