Danon Disease and Eye Problems
Retinopathy is an eye problem that many people with Danon disease have. It can cause dark spots in the outer part of the eye, blurry or worse vision, and unusual test results on an eye exam. Sometimes these eye changes show up before heart problems, so an eye check can help find the disease early.
Danon disease happens because of a change in the LAMP2 gene, which makes it harder for cells to clean up waste. This causes eye cells to stop working well.
Some of the problems the missing or damaged LAMP2 gene can cause in the eye for those living with Danon Disease are:
Peripheral pigmentary retinopathy: This is the most common eye change. It happens mostly in girls and women with the disease. It shows up as color changes or thinning in the outer parts of the eye.
Vision symptoms: People may slowly start to see worse and may be bothered by bright light.
Other problems: Some people can also have trouble with the center of their vision, trouble telling colors apart, and trouble seeing things off to the side.
Early signs: Retinopathy can be one of the earliest signs of the disease, appearing even before the cardiac symptoms appear.
Going to an ophthalmologist or optometrist for screening for retinopathy is important, because it can serve as an alert for a diagnosis Danon Disease and potential future heart problems, especially if there is history of Danon’s or heart muscle issues in the family.
