Best disease

What is Best disease?

Best disease (also known as vitelliform macular dystrophy) is an inherited condition that causes progressive sight loss. It is a type of juvenile macular degeneration. Juvenile means it starts in childhood, and macular degeneration means there is a problem with the macula.

The macula is the central part of the retina (the light-sensitive layer at the back of the eye). We use the macula for seeing in detail.

What causes Best disease?

Best disease is caused by a fault in a gene called BEST1. More than 100 different faults have been discovered so far that can cause the condition. There are several forms of Best disease.

Usually, Best disease is ‘autosomal dominant'. This means there is a one in two chance that a parent with this type of Best will pass the condition on to their child.

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. 

What are the signs and symptoms of Best disease?

Best disease causes the retina to detach from its support layer (retinal detachment). Symptoms can start from the age of three 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.

Is Best disease serious?

Best disease is a serious condition as it leads to progressive sight loss. It gradually affects central vision, which is critical for detailed tasks like reading and recognising faces. The severity and rate of progression can vary between people.

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How is Best disease diagnosed?

Best disease is diagnosed through a combination of family history, clinical examination, and specific tests such as electro-oculography (EOG), which measures the function of the retina. Genetic testing can help to identify mutations in the BEST1 gene.

What are the treatments for Best disease?

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

What can help Best disease?

While there are no treatments to stop the progression of Best disease, supportive measures such as low vision aids and training methods can help manage the symptoms and assist with daily activities. These measures aim to maximise your remaining vision and improve quality of life.

It's important to have regular checks to monitor your sight, as well as getting checked out if you notice any changes in your vision. 

What research is there into Best disease?

Research into Best disease continues to show 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.

If you're personally affected by Best disease and are interested in fundraising to help us fund cutting-edge research in this area, find out how to set up a family fund.