Wolfram syndrome

What is it?

Wolfram syndrome is a rare inherited disorder that causes sight loss as well as problems in other parts of the body. It used to be called DIDMOAD, which stands for the main problems of diabetes insipidus, diabetes mellitus, optic atrophy and deafness.

Sight loss in Wolfram syndrome is due to damage to the optic nerve (the specialised cable that carries visual signals from the eye to the brain). When the optic nerve is damaged, it becomes pale in colour (optic atrophy). The cells within the optic nerve that are affected in Wolfram syndrome are known as retinal ganglion cells. Vison gets worse as more of them are lost.

  • Causes

    There are 2 types of Wolfram syndrome that we know of so far. Wolfram syndrome type 1 (which is much more common) is caused by a fault in the gene WFS1. Wolfram syndrome type 2 is due to a fault in the gene CISD2.

    We know that these genetic faults affect the ‘endoplasmic reticulum’ – the name for a part inside the cells of the body. It works as a factory to produce proteins.

    The genetic faults also affect mitochondria – the tiny batteries within our cells that produce energy. As a result, the affected cells have great trouble producing enough energy to survive, but we don’t know exactly how it all happens.

  • Symptoms

    People with Wolfram syndrome start to lose their sight as young children and almost all of them are eventually registered blind. They become aware of losing their central vision, which gradually gets worse, and they also stop being able to discriminate colours and fine contrast.

  • Treatments

    People with Wolfram syndrome can be treated for hormonal imbalances and for the high blood sugar caused by diabetes. However, there are currently no treatments that can stop sight loss from getting worse in this genetic disorder.

  • Research

    A major focus of Wolfram syndrome research is to develop a treatment to stop or slow down loss of vision. To do this, we need to understand a lot more about how these faulty genes affect the cells’ protein-making factory (the endoplasmic reticulum) and why the ‘power plants’ (the mitochondria) that produce most of the cell’s energy stop working properly.

    Recent projects

    How do faults in the WFS1 gene lead to cell death in Wolfram syndrome?

    1 October 15 - 1 September 18

    On the road to developing drug treatments.

    Find out more
  • Clinical trials

    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.

    Taking part

    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 August 2015
Approved by Dr Patrick Yu-Wai-Man, Newcastle University

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