AKU patients start to develop black spots in the whites of their eyes as they get older. This is caused by a chemical called homogentisic acid (HGA) accumulating in the eye over time until it begins to become visible.
Although this looks serious, these black spots will not affect vision, cause any eye pain or any other complications. As the patient gets older these spots will start to get bigger.
The black spots begin to appear at different ages, but they will eventually appear in almost all AKU patients. Generally, the black spots will appear when a patient is in their 40’s.¹
An introduction to alkaptonuria and nitisinone