Pseudoxanthoma elasticum (PXE)

Pseudoxanthoma elasticum (PXE) is a rare condition. It’s pronounced ‘pixie’ and is also known as Gronblad-Strandberg Syndrome. Families pass it down, so you may have a parent or relative with it. PXE affects your eyes, skin and blood vessels. It is very uncommon, affecting only one in 25,000 people. 

PXE makes calcium and other minerals build up in stretchy (elastic) body tissues. This can damage the retina in the eye, which is the part of the eye that detects light. PXE can also cause small cracks in a layer of the retina, which are called angioid streaks. Tiny blood vessels then grow through these cracks and leak, causing problems with sight. You might notice your vision becomes blurry or straight lines look wavy. Vision when it is dark or at night might also be more difficult as PXE gets worse. 

PXE affects people in different ways and slowly gets worse over time. However, not everyone with PXE will develop sight issues. 

Some people notice changes in their skin first. The skin may look yellow, bumpy, or like the skin of an orange, or it may become loose or wrinkly. PXE can sometimes affect the stomach and digestion too. 

There is no cure for PXE yet. However, finding it early can help protect your sight. This page explains PXE symptoms and how people are diagnosed. It will also explain treatments and how to get support. 

What are angioid streaks?

An eye care specialist will be able to see spots on the retina. These are called angioid streaks and are small cracks in a layer of the eye called Bruch’s membrane. Later in life, blood vessels can grow through these cracks. This is called choroidal neovascularisation (CNV). These blood vessels leak blood and fluid. This then leaves scars, which is what causes visual problems. These changes usually happen in both eyes and get worse over time.  

How PXE is diagnosed: tests and what to expect 

There are a few different ways to diagnose PXE.

Diagnosis usually means having:

• Eye examinations – checking for changes to the retina and looking for lines on the retina (angioid streaks)
• Skin checks – a doctor will look for skin that looks like orange peel. They might also do a skin biopsy. This involves removing a small piece of skin, which can be checked for PXE.
• Special eye tests – optical coherence tomography (OCT) will be used to check your eye. It uses light waves and 3D images to show changes to the retina.
•  Fluorescein angiogram -where dye is injected into your arm. The dye goes through your body, including the eyes. A special camera is then used to take photographs of your eye. This will show any changes to your retina.
• Genetic testing to show if you have problems with the ABCC6 gene.

PXE treatment options

Although there is no cure for Pseudoxanthoma elasticum (PXE), treatment can help.

Eye injections

Many people who have PXE have a treatment called anti-VEGF therapy.

VEGF stands for vascular endothelial growth factor. This is what helps to grow new blood vessels. The injections stop the growth of new blood vessels. They also stop the blood vessels from leaking.

These drugs are given by an injection into the eye. You might feel worried about having eye injections. It’s very normal to feel this way.

 The injections are used to treat many different eye conditions, so the eye clinic staff are very experienced at giving injections.

Many people feel less scared once they know what to expect.

There is a lot of information about the process on our eye injection page. This page explains what happens, what it feels like, and how to take care of yourself afterwards.

Lifestyle changes for people with PXE

Taking good care of your general health is important if you have PXE.

To improve your quality of life:

• Try to maintain a healthy weight. Being overweight puts strain on your whole b
• ody, especially your heart. Protect your eyes from the sun by wearing sunglasses. They should give you 100% protection from ultraviolet (UV) rays. The label on the glasses will tell you the rating.
• Although you might experience pain when walking, regular exercise can help.
• Stop smoking, as it can make PXE eye symptoms worse. This is because smoking makes blood vessels leak more. It can also make stomach bleeding worse.
• Try not to take anything that thins your blood. This includes medicines like Aspirin and Ibuprofen. This is because they increase bleeding.
• Monitor your eyesight with an Amsler grid. This can help you notice small, early changes in your vision.

Pregnancy and PXE

Most people who get pregnant with PXE have no problems. However, there can be some eye strain that happens when you are giving birth.

Make sure to tell your medical team that you have PXE. They can then help if there are any extra things to think about.

Some people with PXE find their skin issues get worse during pregnancy. You may need your heart and stomach to be checked more often during your pregnancy.

Living with PXE

PXE can affect your daily life and your mental health. Good support and small changes can help you keep your independence.

Practical advice for living with PXE

Use low vision aids like magnifiers and screen readers. These will help you see fine details better.

People with PXE can find it difficult to see in low light. Make changes to the lighting around your home to give you better lighting when you are focusing on tasks, or to reduce glare. Take a look at our guide to lighting changes for more help with this.

Monitor your symptoms. If you notice symptoms getting worse, or any new ones, get in touch with your healthcare team straight away.

Keep an eye on your blood pressure. High blood pressure can make eye symptoms worse, so make sure you check it regularly.

Get regular optician checks 

Use an Amsler grid of black lines to check your sight. The grid lines will look blurred, wavy or distorted, or have missing spots if your vision changes.

Current research and developments for PXE

Researchers are looking at why the ABCC6 gene problems cause the build-up of minerals. They also want to find out how to slow down the effects of PXE.

You can find out more about PXE research at the PXE International website.

A new group called REACT-PXE was formed in 2026. REACT-PXE stands for Research, Education and Advanced Care Teams for PXE. This group includes lots of experts from European countries and was formed to help design new studies to understand PXE.

Support and resources for you

Finding out you have PXE can be worrying. You will have lots of questions about what to expect.

You might also be worried about how it will affect your work, family, and daily activities.

Get support – speak to friends and family about how you feel. You will feel better once you have been able to talk about your emotions.

 Professional support is also available from the Macular Society. We provide counselling, befriending services and support groups. You can also call the Macular Society Helpline on 0300 3030 111.

FAQs 

What is PXE?

PXE is a rare health problem that affects blood vessels, eyes and skin. It can also affect your stomach, heart and legs. You are born with it, but symptoms often develop throughout your life.

Can PXE cause blindness?

Although PXE does get worse over time, and it can cause significant sight impairments, it usually only affects central vision. Most people with PXE keep the vision around the centre (peripheral vision).

Is PXE inherited?

PXE runs in families. You can get it if both your parents carry the faulty gene, even if they don’t have the condition themselves. If you carry the faulty gene and so does your partner, you can pass it to your children.

What are the early signs of PXE?

The first signs of PXE are: Blurry vision Problems with seeing in low light Seeing straight lines as wavy lines Yellow, bumpy skin

How is PXE treated?

There is no cure, but injections can help slow down damage to your eyes.

Can I do anything to slow down PXE?

You cannot stop PXE from affecting your body, but you can protect your health by:

• Visiting an eye specialist regularly
• Stopping smoking
• Maintaining a healthy weight with a good diet
• Protecting your eyes with UV sunglasses.