Stargardt disease

Stargardt disease is a rare disorder of the macular. This is part of your retina at the back of your eyes.

It’s an inherited genetic condition that can develop in childhood or early adulthood, and also less commonly late adulthood. It affects 1 in 8,000 to 10,000 people.

The central vision in both eyes is affected by damage to the macula. This can affect activities like:

  • watching TV
  • reading
  • looking at faces

Side vision (peripheral vision) is usually unaffected. Most people can lead a relatively independent life.

Progress of the disease varies. The rate of central vision loss is  quicker the earlier (younger) you’re diagnosed.

The disease is sometimes called:

  • Stargardt macular dystrophy
  • juvenile macular degeneration

If you need support, contact RSBC:

Call 0203 198 0225

Email connections@RSBC.org.uk

We help young people up to the age of 25.

Learn more about Stargard disease

Symptoms of the disease vary but can include:

  • reduced central vision
  • reduced detailed vision
  • problems with colour vision
  • blind spots, where you lose vision
  • wavy vision, where straight lines appear wavy
  • blurred vision
  • difficulty adapting to different light levels

Most people don’t lose peripheral or side vision – a minority do develop reduced night vision and peripheral/side vision over time.

You usually see an ophthalmologist at the hospital to diagnose your condition.

It is not uncommon that there can be a delay in diagnosis until appropriate testing is undertaken, or a specialist ophthalmologist has been seen.

If you have Stargardt disease you usually have retinal changes that can be seen by a dilated (eye drops used to widen the pupils) retinal examination yellow-white flecks at your macula and may also have retinal atrophy/thinning at your macula.

You may have other painless tests to assess your vision loss. They may include:

  • standard eye chart, to test how well you see detail
  • visual field testing, to check central and side vision
  • colour testing, to see how well you can see colour
  • fundus photo, to see retinal details
  • electroretinography (ERG), to test retinal function
  • optical coherence tomography (OCT), a scan that gives a detailed picture of your retinal architecture

In Stargardt disease the macula at the back of your eyes deteriorates.

The macula is at the centre of your retina where light is focused.

This is caused by the build-up of toxic material collectively called lipofuscin.

The disease is caused by faults in the ABCA4 gene.

Most people with the disease have no family history of it.Their parents will be carriers for the disease –  one in 4 (25%) of their children will have Stargardt disease.

The risk of a person with Stargardt disease having an affected child is approximately 1% (assuming they do not have a child with another person with Stargardt disease).

If you’re diagnosed with Stargardt disease it can be very upsetting. It’s completely natural to worry about the future.

You may need to make some adjustments, but most people can still live an independent life. This is because your peripheral or side vision isn’t usually damaged.

Lifestyle choices that would be worthy of consideration include:

  • not smoking
  • having a health balanced diet rich in green vegetables
  • potentially taking Lutein and Omega-3 supplements

Patients should avoid taking Vitamin A supplementation and excessive exposure to bright sunlight, including wearing sunglasses with good ultraviolet light blocking properties.

Talking to a counsellor may help you or your child to cope. You can get help from:

  • Eye Clinic Liaison Officers
  • Genetic Counsellors

These can be accessed via your local hospitals.

Unfortunately there is no treatment for Stargardt disease at the moment.

The loss of vision can’t be fully corrected with glasses, lenses, or surgery.

Being seen in clinic can provide information on rate of change, help in the provision of support, and access to low visual aids/assistive technologies.

If you have Stargardt disease it’s very unlikely that your children will have it. This is because your partner is unlikely to be a carrier of the faulty gene.

Your children are likely to have normal vision but will be carriers of the faulty gene.

If you’re worried that having the disease may affect other members of your family, you can be seen in clinic and also access genetic testing.

Find out more about genetic testing from Genetic Alliance.

Seeing a genetic counsellor

A genetic counsellor can tell you more about the condition and how it could affect you and your family.

Doing this can help you make informed medical and personal decisions.

 

Research into possible future treatment or prevention of the disease includes:

  • gene therapy -  replacing or altering faulty genes
  • stem cell therapy -  transplanting stem cells into the eye to replace faulty cells

Find out more about the latest research and trials at:

What next?

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Sight loss doesn’t just affect your child - as a parent, you need support too. Our Family Support Service provides practical and emotional support at every stage of your family’s experience with sight loss.
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