Stargardt disease

It causes a reduction in your central detailed vision, which is the vision you use when looking directly at something. In some people with Stargardt, it can encroach on your peripheral or side vision, but you do not lose all your sight.

Stargardt disease is also known as Stargardt macular dystrophy, juvenile macular dystrophy and fundus flavimaculatus.

This page contains a summary of our information on Stargardt disease. To read our full information, download our factsheet:

The macula is the small central area of your retina where the light entering your eye is focused. The retina is made up of cells which are sensitive to light, called photoreceptors.

The macula is a specialised area that contains a high concentration of photoreceptor cells called cone cells. Cone cells work best in bright light and allow you to see fine detail for activities such as reading and watching television, as well as seeing colour. Therefore, the macula is very important and is responsible for:

• What you see straight in front of you
• The vision you need for detailed activities such as reading and writing
• Your ability to appreciate colour.

Away from the central macula is the peripheral retina, made up of mostly the other type of photoreceptor called rod cells, and some cone cells as well. Rod cells enable us to see in dim conditions and provide peripheral (side) vision outside of the main line of sight. The cone cells in the peripheral retina give peripheral vision in normal daylight conditions.

Stargardt disease is sometimes called a juvenile macular dystrophy as it can first appear in childhood. However, Startgardt disease can also begin later in young adults and late adulthood.

At first Stargardt disease can make your vision unclear or blurry. Things may sometimes appear distorted or wavy. You can have problems with your central, detailed vision which can make activities such as reading and recognising faces difficult. Your colour perception may also be affected. If you’ve had Stargardt disease for several years, then you may have a missing patch in the centre of your vision. This patch will not move and will always be in the very centre of your field of vision.

There are some forms of Stargardt that can affect your side or peripheral vision, but for most people with the condition, it is the central vision that is affected. Since you use your peripheral vision when you’re moving around, most people with Stargardt disease can manage to continue getting out and about on their own.

Stargardt disease can also cause problems with light, such as glare and difficulties adapting to changing light conditions.

Stargardt disease is a genetic condition that is caused by a change or variation in one of our genes. In Stargardt's, this variation in the gene leads to a build-up of a waste product, lipofuscin, and can eventually damage the cone cells in the macula.

When genes are identified they are given names usually made up of numbers and letters. The genes associated with Stargardt's are ABCA4, ELOVL4 and PROM1. The gene responsible for most cases of Stargardt disease is ABCA4.

All genes come in pairs, and you inherit one of each pair from your mother and one of each pair from your father. Your genes determine the many things which make you an individual such as hair or eye colour.

There are several ways a genetic condition can be passed through genes. If Stargardt disease is caused by a variation in the ABCA4 gene, then it is inherited in an autosomal recessive pattern. If a variation in the ELOVL4 gene is responsible, then Stargardt disease is inherited in an autosomal dominant pattern.

Autosomal recessive

Most cases of Stargardt are inherited in a recessive pattern. A recessive condition can only be inherited when you get two "variant" genes, one from each parent. Therefore, both parents have to carry a variant gene. If your parents have one "normal" gene and one variant gene, they are carriers of Stargardt and their sight will not be affected. This is because the normal gene compensates for the variant gene. If both your parents pass on their variant ABCA4 gene, then you have two of these variant genes, and will inherit Stargardt disease.

Autosomal dominant

Dominant inheritance means that you inherit a disease from only one of your parents. The variant gene that you inherit from one parent is the dominant one and over-rides the normal gene from your other parent. Usually, the parent who has passed on the variant gene will also have Stargardt disease.

When a parent with the dominant ELOVL4 Stargardt gene has a child with someone who does not carry the Stargardt gene, there is a 50 per cent chance that the variant gene will be passed to a child. If a child does not inherit the "variant" gene, the child cannot pass it on to their own children.

A small number of cases of Stargardt disease are inherited in a dominant pattern.

Most people who have Stargardt disease have parents who don't have the condition. This means that Stargardt often occurs in families that have no history of the disease in the past. It may be a new genetic variation in the affected individual, which has not been passed down by parents. In this situation, genetic testing is recommended so doctors can identify the cause and advise on the risks of passing the change to future generations.

For more information on how Stargardt disease may be passed through your family, you may want to speak to your GP about a referral to a clinical geneticist (a doctor who specialises in genetic conditions). They can discuss your situation with you and your family in more detail. You may also wish to contact the Genetic Alliance for more information on genetics.

Stargardt disease causes changes to the appearance of the macula area of your retina. If affects the vision by causing the photoreceptor cells of the macula to be lost over time. When the ophthalmologist (hospital eye doctor) looks into your eye to examine your retina they may notice differences which can help them to diagnose the condition such as:

• Yellowish flecks which surround your macula are very characteristic of Stargardt disease. These yellow flecks are lipofuscin which is a by-product of cell activity.
• As the disease progresses, an oval lesion can be seen which is often referred to as “beaten bronze” in appearance within your macular area.

Sometimes people only have the flecks without the macular lesion, and in the past, these people may have been diagnosed with an eye condition called fundus flavimaculatus. However, researchers now believe that these two findings, the macular lesion and the yellow flecks, are part of the same genetic condition, but are just expressed in different ways.

Although there currently is no treatment for Stargardt disease, there is much that can be done to make the most of the vision you have. This may mean making things bigger, using brighter lighting, or using colour and contrast to make things easier to see. You can also find out tips for making the most of your sight by downloading our booklet:

It is hoped that current research and developments into drug and gene therapies will lead to treatments soon for those that are in the early stages of Stargardt, while stem cell therapy can give hope to those who have had the condition for a while.

An active area of research is looking at medications that can reduce the amount of vitamin A by-product that builds up in the eyes of those with Stargardt disease. If you have Stargardt disease, you are not able to clear vitamin A by-products in your eye due to the defective gene. These by-products collect in the macula, and this affects how well the cells work, leading to your sight being affected. If you're diagnosed with Stargardt, you should avoid taking supplements containing vitamin A. There is further information on the role of vitamin A on Stargardt's Connected website.

Gene therapy aims to replace the variant gene such as ABCA4 within the affected retinal cells with a new gene that works properly. The normal gene is injected into the eye of the person with Stargardt disease. The hope is that the affected cells then begin to work correctly thereby stopping the progression of the disease.

Stem cells are cells that can divide many times and can replace damaged or missing cells in different organs and tissues of the body. If stem cells can be turned into the specialised retinal cells, it may be possible to replace the cells that have been damaged in Stargardt disease.

Researchers have reported that exposure to ultraviolet (UV) light may theoretically cause further toxic by-products leading to retinal damage. Therefore, protecting your eyes from UV and blue light with sunglasses that have 100 per cent UV filtering might be helpful. Wraparound styles provide protection from light coming in from the sides and tops. We have more information on choosing sunglasses.

Stargardt disease can cause severe problems with your central vision. However, most people with the condition retain their peripheral vision, so will not lose their sight completely.

There are lots of things that you can do to make the most of the vision you have. This may mean making things bigger, using brighter lighting or using colour to make things easier to see.

A low vision assessment gives people a chance to discuss any practical problems they are having with their vision with a low vision specialist. The specialist can explore things like magnifiers, lighting, colour contrast and other adaptations that may help. Assistive technology can also be very useful to help you with your work, hobbies and activities. You can ask for a referral to a low vision clinic from your ophthalmologist, optometrist or GP.

When you have sight changes, you may be worried about finding work, or staying in your job. Our Employment team can provide specialist support and advice about employment for people with sight loss.

Local social services should also be able to offer you information on staying safe in your home and getting out and about safely. They can offer you some practical mobility training to give you more confidence when you are out.

Depending on how much of a person’s sight is affected by Stargardt, they may be eligible to be registered as sight impaired (partially sighted) or severely sight impaired (blind). An ophthalmologist would be able to tell you whether you are eligible.

Registration can act as your passport to help and sometimes to financial concessions but a lot of this support is still available to people who are not registered..

Our Sight Loss Advice Service can also give you practical guidance on living with sight loss, and our Online Shop has products that can make everyday tasks easier.

Being diagnosed with an eye condition can be very upsetting. You may find that you’re worried about the future and how you will manage with a change in your vision. All these feelings are natural.

We’re here to support you every step of the way, and to answer any questions you may have – just get in touch with our Sight Loss Advice Service.

• Macular Society is a self help group for individuals who are affected by eye conditions relating to the macula.
• Gene Vision - A resource for patients and doctors about rare genetic eye disorders.
• Genetic Alliance UK is the national charity of over 130 patient organisations, supporting all those affected by genetic conditions.

Stargardt’s Connected

• Stargardt's Connected is a UK Charity which aims to raise awareness of Stargardt, give support and raise funds for support and a potential treatment/cure.  More details can be found on the website where you can find relevant information and join their mailing list:

Web: stargardtsconnected.org.uk

Email: [email protected]

Joining the Stargardt's Connected Patient Register:

stargardtsconnected.org.uk/community-register