We are trying to diagnose new patients in the UK by asking people with black spots on the white of their eyes to send us photos of the black spots to see if they need a test for AKU.
As a lot of you are aware, the pain from AKU gets worse when patients are older. Because of this, many people either do not get diagnosed until they are much older or are diagnosed when they are younger and have forgotten. Due to this, we are looking for people in the UK who have black spots on the white of their eyes that could be related to AKU.
Black spots on the white of the eyes are one of the only visible symptoms of AKU. It can be a symptom that shows up before joint pain or a long time after. It depends on the patient and can change from person to person. The spots can be very distressing for people, especially for those who do not have a diagnosis that would explain them. Before people get in contact with us to see if AKU might be a diagnosis, we urge everyone who has them to go to their doctor or optician as soon as they can. They can rule out anything related to other conditions first.
If everything else is ruled out, we are asking people based in the UK to head to this link on our website and fill in the form below. You would need to make sure you are happy for us to share your information with the National Alkaptonuria Centre (NAC) which will look at your photo and see if you a need test.
You will need to take a high-quality picture of your eye so we can see the spots in detail. You can do this with your smartphone camera. Ask a friend or family to help and make sure you use the back camera of the phone as this is the best camera for a high-quality photo.
Once we receive the photo, we will send this to the NAC which will check it to see if AKU might be the cause of the black spots. Once the doctors at the NAC have made a decision, they will let the AKU Society know and we will liaise with you directly so we can inform your GP that you will need a urine test to check if you have AKU. This test is sent to the team at the NAC; your GP surgery will not have to pay for the test.
This service is currently only available for people based in the UK. If you are not, we cannot provide analysis or look at your eye pictures.
If you want more information, need to understand how we use your data or are concerned about black spots on the white of your eyes, please contact ci****@ak********.org.