Stargardt disease

How is Stargardt disease caused?

Genetic conditions like Stargardt disease are passed down from parents to their children. They are inherited in either a dominant or recessive form. Where a genetic condition is caused by only one faulty gene from one parent, it’s called a dominant form. This means the parent with the faulty gene will have the condition themselves and there is a 50% chance that they will pass the gene on to each child they have. This chance is the same for each child, whether they are male or female. 

When the faulty gene is inherited from both parents, it’s called a recessive form. In a recessive genetic condition, the parents probably won’t have the condition themselves, although they both carry the faulty gene. With recessive inheritance, there is a 25% (1 in 4) chance of each child inheriting the condition. This chance is the same for each child, whether they are male or female. 

Stargardt disease is most often inherited in the recessive form. The gene connected with this form of Stargardt disease is called ABCA4 on chromosome 1.

Alterations in another gene called ELOVL4 cause a less common dominant form of the disease. 

What are the symptoms of Stargardt disease?

In the early stages, people may have good vision, but might experience symptoms like: 

• Difficulty reading or seeing in dim light  
• Blurriness and distortion of vision 
• Difficulty adapting from dark to light, or light to dark surroundings. 

Children with Stargardt disease often first experience symptoms between the ages of 6 and 12. However, some do not have any symptoms until adulthood. Stargardt disease is usually diagnosed in people under the age of 20. But some forms of the disease can start in people over the age of 50. 

How quickly does vision get worse?

The progression of Stargardt disease varies. At first, changes to vision are often quite slow. But once your vision has begun to change, then the sight loss can become more rapid.  

Eventually, most people with Stargardt disease end up with very low vision, which cannot be corrected with glasses, contact lenses or surgery.  

How is Stargardt disease diagnosed?

An eye care professional can diagnose Stargardt disease by examining the retina. Lipofuscin (waste material) deposits can be seen as yellowish flecks in the macula. 

The flecks are irregular in shape and usually form a ring around the macula. The number, size, colour and appearance of these flecks vary from person to person. 

A standard eye chart and other tests may be used to assess symptoms of vision loss in Stargardt disease, including: 

• Visual field testing – assessing the full horizontal and vertical range and sensitivity of a person’s vision and detecting blind spots. 
• Electroretinography (ERG) – measuring electrical signals produced by the retina following flashes of light. 
• Optical coherence tomography (OCT) – a scan using light waves to capture images of the retina which are then analysed for abnormalities. An OCT scan is sometimes combined with infrared scanning laser ophthalmoscopy (ISLO) to provide additional surface images of the retina. 
• Autofluorescence imaging – using a special camera to photograph cells in the back of your eye.  
• Genetic testing – as part of a Stargardt disease diagnosis, you may be invited to take a genetic test to learn more about your condition.  

Treatments

There is currently no treatment for Stargardt disease. However, there is a great deal of research going on into potential treatments.  

Gene-based therapies and stem cell research to combat Stargardt disease are currently being investigated. 

What can I do to look after my eyes?

It’s thought that people with Stargardt disease cannot process vitamin A properly, so it’s important to avoid getting too much vitamin A.

• Try to avoid bright light as it may make your vision worsen faster. 
• Visit your optician at least every two years for a general eye test 
• Don’t smoke 
• Maintain a healthy weight and blood pressure 
• Wear lenses which block UV light, particularly in bright sunlight. Blue block filters also reduce glare 
• Wear a hat with a wide brim or visor to shade eyes from direct sunlight 
• Limit alcohol intake to recommended levels 
• Eat lots of fruit and green, leafy vegetables 

See our Healthy living page for further information on how to look after your eyes. 

Living with Stargardt disease

Stargardt disease affects your central vision which can make it difficult to see detail, read and cope with bright light. You can learn to use your side vision more effectively over time. This is called ‘eccentric viewing’ and can make a big difference to how you live. 

There is no cure but there are a lot of practical changes you can make to help you stay independent. 

Making the most of your sight 

Try these tips: 

• Evaluate the lighting in your home and make it brighter in key areas. We have a guide to lighting redesign that might help you with ideas. 
• Choose large print books 
• Change the settings on phones, tablets and computers to increase the text size  
• Sit closer to your television 
• A low vision assessment can help you understand exactly what changes to make and what works best for you. 

Coping with light sensitivity 

Many people with Stargardt disease find bright lights uncomfortable. To help with this, you can try: 

• Wearing 100% UV-protective sunglasses when you’re outside 
• Using tinted lenses 
• Wearing a hat with a brim 
• Changing the brightness of your screens 

Children with Stargardt disease

Children with sight loss are eligible for special educational needs (SEN) support in school. This can provide your child with the adaptations, equipment and support they need to fully access the curriculum. 

In higher education, the Disabled Students’ Allowance (DSA) can fund equipment and support. 

• Speak to the school, college or university about a plan for your child: 
• They might need to sit close to the teacher to see learning materials 
• Ask about extra time to complete tasks 
• Request large print education material  
• A helper might be required by some children.  

Working when you have Stargardt disease

Everyone who has a disability has the right to be supported at work. Your employer must work with you to make ‘reasonable adjustments’ to help you succeed in the workplace. Some changes they might make include: 

• Extra time to complete work 
• Large print materials 
• Better lighting in your work areas 
• A helper to help you complete work tasks 
• Screen readers or other low vision aids 

You can read more about working with a macular condition in our guides to employment. 

Research into Stargardt disease

There is not yet any cure available for Stargardt disease. Scientists are testing new ways to slow down vision loss associated with the disease and help protect the retina.  

The main areas of research for Stargardt disease are: 

• New medicines 
• Gene therapy 
• Stem cell therapy 

Research into medicines

Medicines to protect the retina are a key target for scientists. These medicines aim to: 

• Reduce the build-up of harmful waste in the eye 
• Protect the light-sensitive cells of the eye.  

The medicines are designed to slow down the progress of vision loss. They won’t cure the condition.  

Gene therapy for Stargardt disease

Gene therapies aim to treat the causes of disease. Stargardt disease is caused by a fault in the ABCA4 gene. The therapies try to either: 

• Add a healthy copy of the gene to the eye 
• Stop the damage caused by the faulty gene 
• Early research into gene therapy is showing small benefits and so far, it seems to be safe.  

Stem cell therapy for Stargardt disease

Stem cells are a special type of cell that can turn into any type of tissue in the body. Researchers are looking at whether they can use stem cells to replace damaged ones within the retina.  

They are aiming to:  

• Protect the vision that people with Stargardt disease already have 
• Slow down any further damage.  
• More research is needed but early results of studies show that these treatments have small benefits and are safe.  

Macular Society research into Stargardt disease

The Macular Society also fund research into macular conditions. Read about one of our research projects, specifically aimed at transforming the lives of people with Stargardt disease. 

Support for people with Stargardt disease

The Macular Society has a wide range of practical and emotional support to help people with Stargardt disease, as well as their family and friends.  

For free, confidential advice and information, you can call our helpline on 0300 3030 111 from 9am-5pm, Monday to Friday. You can also email help@macularsociety.org.  

Find out more about the support available for young people and people of a working age or join the Facebook group.