Stargardt macular dystrophy
What is it?
Stargardt disease (or Stargardt macular dystrophy) is an inherited eye condition that affects predominantly the macula and has a prevalence between 1 in 8,000 to 10,000 individuals. The macula is a specialised region of the light-sensitive layer at the back of the eye (the retina) that we use to see details in the centre of vision. In Stargardt disease, loss of the light detecting cells (the photoreceptors) in the macula leads to progressive reduction of vision, and hinders detailed vision.
A common feature of Stargardt disease is yellow flecks in and around the macula. The yellow flecks called lipofuscin, are a by-product of vitamin A, which is usually cleared away. However, in Stargardt disease lipofuscin abnormally accumulates, forming clumps which eventually damage the photoreceptors needed for central vision.
Stargardt disease is caused by faults in a gene known as ABCA4. Mutations in the ELOVL4 gene can also cause this condition, however mutations in this gene are less frequent. Both ABCA4 and ELOVL4 genes provide instructions for making proteins that are found in the photoreceptors in the retina.
A child must inherit one faulty copy of the gene from each parent in order to develop the disease. This means each child will have a 1 in 4 chance of being affected if both parents carry a fault.
Symptoms of Stargardt usually start between childhood and early adulthood. Initially, vision will appear unclear and blurry. As the disease progresses, symptoms can include loss of central vision (including some blank spots) in both eyes, problems with colour vision, being sensitive to light and, in some cases, being slow to adapt to the dark. The symptoms vary from person to person depending on the exact genetic fault. Peripheral vision may be affected by Stargardt disease.
Stargardt disease is currently untreatable. To slow down the progression of the disease it is recommended for individuals with Stargardt to wear UV-protective sunglasses, consume a healthy diet rich in carotenoids, and avoid vitamin A dietary supplements.
As the genetic cause of Stargardt disease is already known, researchers are currently working on developing treatments that directly target the faulty gene.
Finding a treatment that can slow or stop sight loss from Stargardt disease is a key focus for research. One approach is to use gene therapy to replace the faulty gene with a healthy one. Stem cell replacement therapy is another avenue being explored as a treatment.
Another approach is via ‘designer drugs’ specially engineered to override the genetic fault, with a recent study showing potential positive effects from an engineered type of dietary vitamin A. Research is also needed to understand the way lipofuscin builds up and how to reduce it.
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Rose Roberts was diagnosed with Stargardt macular dystrophy when she was seven years old.
It was when Rose started to make comments about having difficulties at school, like the lights were too bright or that she couldn’t see the board that Rose’s mum, Tina, decided to take her to a local opticians for an eye test.
Following this appointment they spent weeks going back and forth to Moorfields Eye Hospital having several tests for it to be confirmed that she had Stargardt’s.
Rose said: “I thought there were things wrong but I thought that everyone else was seeing it too because I didn’t know that it was a condition.”
The condition means that Rose has no central vision and relies on her peripheral vision – so she can make out shapes but can’t see detail.
On receiving Rose’s diagnosis the family didn’t know anything about the condition or anyone who had it, until they were introduced to Fight for Sight and learnt about the research that Fight for Sight was funding.
Tina said: “We believe Fight for Sight can achieve an awful lot on behalf of us and also for other families in the same position. We believe there is a cure out there, we’ve just got to raise enough funds.”
You could play an important part in eye research by being a participant in clinical research study that may benefit many people. You could even help shape clinical research by becoming more actively involved and having a say. Patients, carer, or anyone with an interest can help.
What are clinical trials
Clinical trials are research studies that find out if a medical strategy, treatment, or device is safe and effective for humans. They are a key research tool for improving medical knowledge and patient care. The people who carry out research are mostly the same doctors and healthcare professionals who treat people. Their aim is to find better ways of treating patients and keeping people healthy.
Here are some ways to find out about research projects and clinical trials that you can get involved in.
UK Clinical Trials Gateway
The UK Clinical Trials Gateway run by the National Institute for Health Research (NIHR) provides easy to understand information about clinical research trials running in the UK, and gives to a large range of information about these trials. It is designed to enable patients and clinicians to locate and contact trials of interest. Visit their website and select the eye condition that you are interested in.
NIHR Clinical Research Network Portfolio
The NIHR Clinical Research Network Portfolio is a database of high-quality clinical research studies in England, Northern Ireland, Scotland and Wales. Within this the Ophthalmology Specialty Group supports a national portfolio of research studies in ophthalmology and the vision sciences. See their website for details.
If you wish to join a trial it is always best to discuss this with your doctor or clinical team first.
Last updated October 2017
Approved by Dr Rola Ba-Abbad, Institute of Ophthalmology, University College London