Bestrophinopathies

Bestrophinopathies are rare eye conditions. They run in families (are inherited). They affect the macula which is the part of the retina you use to see what’s directly in front of you. This is called your central vision. The retina is the light-sensitive layer in the eye that helps us to see detail.  

Bestrophinopathies are caused by changes in a gene that’s known as BEST1. So far scientists have found around 300 different gene changes.  Bestrophinopathies affect both eyes. People with these conditions typically notice an effect on sight in early childhood, though some effects may not be noticed until later life. Changes and vision loss often worsen over time, though this varies between people. 

People sometimes use the term ‘Best disease’ to refer to all conditions linked to the BEST-1 gene, but these are now considered distinct conditions.  

There are five different types of bestrophinopathy: 

1. Best vitelliform macular dystrophy (BVMD) or “Best disease”, which is the most common of these conditions 
2. Adult vitelliform macular dystrophy (AVMD) 
3. Autosomal recessive bestrophinopathy (ARB) 
4. Autosomal dominant vitreoretinochoroidopathy (ADVIRC) 
5. Best-1 associated Retinitis pigmentosa (RP) 

Each type causes a different pattern of damage to the retina. All of them, except ADVIRC, affect the macula. 

There is currently no cure. This page will explain the causes of bestrophinopathies, how the condition is discovered by a doctor (diagnosis) and treatments. 

How to recognise early symptoms of bestrophinopathies 

If you have one of these rare conditions, you will usually notice changes to your central vision (what you see straight in front of you): 

• Blurriness  
• Seeing wavy lines when they should be straight 
• Difficulty seeing people’s faces 
• Blind spots  
• Light sensitivity 
• Colours appearing differently 

Symptoms affect different people at different times. Some people may be affected severely. Others might have only mild changes to their vision. 

What happens if I notice any changes to my vision? 

Some people find it helpful to check for any signs of eye changes using an Amsler grid. This grid helps highlight any blind spots or distortions in your vision. You can use one regularly to monitor changes in your sight. Other people will notice changes when doing their usual everyday activities. 

If you notice any changes to your vision, seek help promptly. Make an appointment with an eye specialist, as early treatment could help protect your sight. 

If you’re experiencing difficulties with your vision, call our helpline on 0300 3030 111 for advice and support. 

How bestrophinopathies are diagnosed: tests and what to expect

 An eye specialist will use a few different tests to look for signs of bestrophinopathies. They might offer blood tests to check for changes in the BEST1 gene. 

There can also be a buildup of waste material. This waste material is called lipofuscin. The buildup of lipofuscin damages the cells and can cause vision changes. 

The different eye tests you might have include: 

• Electro-oculogram (EOG) - this test looks at activity in your retina. To perform the test, you will have small sensors placed on the sides of your head, near your eyes. You will be given some eye drops and then asked to follow the direction of a moving red light. The eye drops help dilate (widen) your eyes.

• Electro-retinogram (ERG) this test measures how your retina reacts to flashes of light in the light and the dark. The test will use different colours and brightness levels. You will need to spend about twenty minutes in a dark room before the test starts, to give your eyes time to adjust 

• Optical coherence tomography (OCT) uses a 3D scanner to take photographs of the eye. These images allow eye specialists to understand any changes to the retina. 

• Fluorescein angiogram (FA) involves an injection of dye into your arm. The dye goes through your body, staining the tissues in the eye. A special camera is then used to take photographs of the eye. The dye stains will help eye specialists see the eye tissues in more detail so they can see any damage. 

• Fundus autofluorescence (FAF) shows the health of the eye by looking for waste product buildup. Lipofuscin (waste product) shows up under special lights and can tell your eye specialist more about your eye condition. 

If you need to have eye drops for any tests, you should not drive for several hours afterwards. This is because eye drops can make your vision worse for a while. Arrange for a family member or friend to take you home after the tests.  

Genetic tests and counselling for bestrophinopathies 

As bestrophinopathies are passed down through families, you may be offered genetic tests and counselling. Genetic tests will help you understand more about how the condition was passed on to you. It can help you and your partner plan for the future and learn about the risks to your family members and future children. 

Managing bestrophinopathies: treatments, lifestyle changes, and support 

Unfortunately, there is not currently any known cure for bestrophinopathies. Scientists are working on gene therapies to see whether this could help people with bestrophinopathies in the future. 

Treating the symptoms 

Although there is no cure, it is possible to treat some of the effects of bestrophinopathies. This can include injections to reduce the growth of new blood vessels. These new blood vessels leak blood and fluid. The leaks scar the retina, causing damage to sight. Most people with bestrophinopathies will never need injections, They are only used if new blood vessels grow underneath your retina.

The injections are known as anti-VEGF treatments. VEGF stands for ‘vascular endothelial growth factor’ – something that helps new blood vessels to grow. The injections stop the growth factor from being produced in the body. 

Eye health protection 

If you have bestrophinopathies, you should make sure to keep your eyes protected as best you can: 

Wear 100% UV protective sunglasses – the label should tell you what level of UV protection there is 

Looking after your mental health 

Living with bestrophinopathies can be difficult and many people find their mental health suffers. It’s normal to feel worried about treatments and what to expect from the years ahead. It’s especially difficult to adapt to changes in your eye health as your vision worsens. 

We run an online support group for anyone affected by bestrophinopathies. Join our community to ask your questions, make friends and get support. 

People are often nervous about having injections. However, worries can often reduce when you know more – so why not read our eye injections page? This page explains what they are, how they work, and how they feel. 

Managing your feelings 

If you’re struggling with your feelings, talk to your family and friends. They might not face the same challenges as you, but talking things over can help. You can also access our support groups, befriending, and counselling services. Just give us a call on 0300 3030 111 for more advice and information. 

How to reduce your risk of bestrophinopathies 

As bestrophinopathies are passed down by our families, there isn’t anything you can do to reduce your risk of getting them.  

You can protect your sight by: 

• Having regular eye tests 
• Eating a healthy diet 
• Reducing stress in your life 
• Protecting eyes from injury and UV rays by wearing sunglasses with 100% UV protection 
• Seeing an eye specialist straight away if you notice changes to your vision 
   

Living with bestrophinopathies   

No two people with bestrophinopathies are the same. It affects people in different ways. Some people will experience mild changes to their vision whereas others will be affected more severely. Even people with the exact same condition will have different symptoms. 

Practical tips for living with bestrophinopathies 

You may have to make a few changes to your lifestyle and everyday life. Small changes can make a big impact. Changes many patients have found useful include: 

• Changing the lighting in the home and work environment to reduce glare and improve brightness. Read our guide to lighting changes for more information. 
• Using magnifiers and screen readers.  
• Making text larger when reading on a smartphone, tablet or computer. 
• Using bold colours in the kitchen and bathroom to help see objects more clearly. 
• Keeping your home tidy so you don’t trip.  

Take a look at our tips for around the home or our guide to going out when you have reduced vision. 

You can also read our advice on technology and low vision aids for more information. 

Children with bestrophinopathies

As bestrophinopathies can affect younger people, school children might need: 

• Larger print 
• To sit closer to the teacher  
• Extra time to complete tasks 

Bestrophinopathies and the workplace 

Working people might need extra support at work. This is called making ‘reasonable adjustments’ and can include: 

• Access to screen readers 
• Extra time to complete work 
• Bigger screens 
• Better lighting in the workplace 
• A dedicated support person 

For more information about working when you have poor vision, visit our practical guides on employment. 

Can I still drive if I have bestrophinopathies? 

You might also need to think about how your eye condition affects your driving. You may be able to continue driving, but that will depend on your symptoms. Take a look at our guidance on driving for information on contacting your insurer and the DVLA. 

Life with bestrophinopathies 

Facing life with an eye condition is hard for everyone who is affected. The good news is that many people with eye conditions live very full and rewarding lives, despite the eyesight challenges they face. It’s important to be flexible and learn new ways to do things you enjoy. Using the right tools and getting support from organisations like the Macular Society and your loved ones will help you live the best life you can. 

Current research and developments for bestrophinopathies 

Current research on bestrophinopathies is focusing on diagnosis, treatment and causes.  There are two ways to study these conditions – using animal models or cell models. In cell models, scientists take skin or blood to analyse. They use the cells they collect to understand more about the disease and to make something called stem cells. 

Stem cell research into bestrophinopathies 

Stem cells are special cells that can develop into anything within the body, like nerves, muscles, or blood. As they can turn into anything at all, they are useful for research. The body uses these cells to repair damage, which makes them very important in understanding conditions like bestrophinopathies. 

The Macular Society funded a study into stem cells with Dr Amanda-Jayne Carr, at the UCL Institute of Ophthalmology. This research showed how different mistakes in the BEST1 gene could have different effects on the protein involved in bestrophinopathies. The research team learned more about how mistakes in genes damage the eye. These results could help us understand more about how to make new treatments.  

Gene therapy and bestrophinopathies 

One of the treatments scientists are investigating for bestrophinopathies is called ‘gene therapy’. This involves replacing the genes that are faulty with healthy genes.  

One of the gene therapies currently being investigated is the Opus Genetics trial. This is looking at injections of OPGx-BEST1. Scientists hope that this treatment will help the BEST1 gene work properly in affected cells.  

Scientists are also looking at using ‘gene editing’ to try and ‘switch off’ the faulty gene in BEST1. They are doing this with a treatment called CRISPR-Cas9. This treatment makes changes to the DNA in your cells. DNA is used by the body as the instructions for making new cells in your body. By editing the DNA, CRISPR treatments can help the body make new healthy cells in your eyes. 

Support & resources 

Living with sight loss is a daily challenge, but support is available. The Macular Society is dedicated to supporting anyone living with or caring for someone with sight loss. We provide a range of services to people with macular disease and their families, friends and eye care specialists.  

You can call our helpline on 0300 3030 111 for advice, information and support.  

We can:  

• Answer your questions  
• Signpost you to other organisations  
• Send you more details of helpful aids for low vision 
• Refer you for counselling 
• Get you involved in befriending 
• Give you details of where to get more support 

We also have a network of support groups across the UK. They are lovely, welcoming groups full of people who understand what sight loss is like.  

Remember, you are not alone – finding support from others with macular conditions can make a big difference to your mental health.  

However, if you find that your mental health is having a big impact on your daily life, please contact your GP. They can make referrals and maybe even prescribe medication to help. Always reach out – to the Macular Society, your loved ones, or a health professional.

 FAQs 

Are bestrophinopathies rare? 

Yes, they are rare conditions that are passed down in families (inherited). 

Will I go blind if I have bestrophinopathies? 

Central vision will be typically affected to some extent but most people keep their side vision.  

Will my vision get worse over time if I have bestrophinopathies? 

Yes, most people with bestrophinopathies find their vision gets worse over time, but it is different for everyone. Two people with the same condition can have very different symptoms and severity of sight changes. 

Can bestrophinopathies be cured? 

There is not a cure yet, but scientists are working hard to understand more about the conditions and how to treat them. 

When do symptoms of bestrophinopathies start? 

For some bestrophinopathies, people will notice changes in childhood. Other people won’t see any differences until later in life. It is different for everyone and depends on the type of bestrophinopathy you have. 

Should my child have an eye test? 

If bestrophinopathies run in your family it is a good idea to take your child for regular eye health checkups. Make sure to ask your child regularly if they have noticed any changes to their sight. 

Can a healthy diet or supplements help with bestrophinopathies? 

Whilst it’s always good to have a healthy diet and get good vitamins, no special diet will help your symptoms. However, a healthy balanced diet with leafy greens is important for overall eye health. Eye supplements that contain lutein and zeaxanthin have been found to help with some macular conditions but at the moment there isn’t any evidence they help with bestrophinopathies. 

Last review date: July 2026

Next review date: July 2028