Best disease

What is it?

Best disease (otherwise known as vitelliform macular dystrophy) is an inherited condition that causes progressive sight loss. It is a form of juvenile macular degeneration, which means it starts in childhood and affects the central part of the retina (the light-sensitive layer at the back of the eye) which is known as the macula. We use the macula for seeing in detail.

  • Causes

    Best disease is caused by faults in a gene called BEST1. More than 100 different faults have been discovered so far.

    There are several forms of Best and they can be passed on through families in different ways depending on which faults in BEST1 are involved.

    Some people inherit faults that cause what’s known as ‘autosomal recessive’ Best disease. If so, their own children may be ‘carriers’ who never develop symptoms but can pass the affected gene on to their children.

    Other people may have ‘autosomal dominant’ Best disease. There is a one in two chance that a parent with this type of Best will pass the condition on to their child.

  • Symptoms

    Best disease causes the retina to detach from its support layer (retinal detachment). Symptoms can start from the age of 3 and slowly become worse over time.

    It gradually affects the ability to see straight ahead and can lead to a blank spot in the centre of the field of view. Vision may be blurred and colours can appear less distinct.

  • Treatments

    There are currently no treatments for Best disease. There are training methods available to help children with Best disease and other forms of macular degeneration with their reading.

  • Research

    Research into Best disease continues to show us more about the effects of different faults in the BEST1 gene. Current research to find an effective treatment centres on developing gene therapy to replace the faulty gene with the correct copy.

    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 August 2015
Approved by Professor Robert MacLaren, Nuffield Laboratory of Ophthalmology, University of Oxford

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