Achromatopsia

What is it?

Achromatopsia is an inherited condition that affects the light-sensitive layer of the eye (the retina). It leads to faulty proteins in the retinal cells known as ‘cones’, which we need for colour vision.

People with achromatopsia have poor colour vision because the cones can’t communicate properly with other cells in the retina. In turn, this means the retina cannot pass information about colour on to the brain.

Achromatopsia is sometimes known as ‘day blindness’ as symptoms are more noticeable in bright light. About 1 in 30,000 people are affected. In some cases not all the cones are faulty - this is called ‘incomplete achromatopsia’.

  • Causes

    Achromatopsia is usually an inherited condition. Six genes have been linked to achromatopsia so far.

    In very rare cases, achromatopsia can be brought on by damage to the brain. This is known as ‘acquired achromatopsia’ (cerebral achromatopsia).

  • Symptoms

    Achromatopsia is often noticed at birth or in early infancy (before 6 months) when the child is very sensitive to light (photophobia), has ‘wobbly’ eyes (nystagmus) and poor vision.

  • Treatments

    There is currently no cure for achromatopsia. Prescription glasses or contact lenses can improve vision. A dark tint to the glasses can help to ease photophobia.

  • Research

    Achromatopsia research is focused on developing gene replacement therapy. This has only become possible since researchers have identified some of the genes that are responsible.

    But there are still genes to be found. This would mean that more people could be given an exact diagnosis and better genetic counselling about how the condition might affect themselves and their families.

    Read our research projects
  • 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 September 2015
Approved by Prof Michel Michaelides, Moorfields Eye Hospital

 

Latest news about Achromatopsia

A look back at eye research in 2015
Read full story
Research to edit the human genome should go ahead, say leading UK science bodies
Read full story
What’s on the horizon to treat inherited retinal diseases?
Read full story
Faulty ‘housekeeping’ gene causes rare form of complete colour blindness
Read full story