Vitelliform macular dystrophy, also known as Best disease, is a genetic eye disorder that causes vision loss that gets worse with time (progressive). This disorder affects the macula, which is an area on the back of the eye (retina) that helps with vision used for detailed tasks such as reading, driving, and recognizing faces (sharp central vision). The disease is caused by a buildup of a fatty yellow substance, called lipofuscin, in the macula cells. This buildup causes damage to these cells and leads to the symptoms of the disease, which includes blurry vision that leads to loss of central vision. This condition usually does not affect the vision on the side of the eyes (peripheral) or the ability to see at night. There are two forms of vitelliform macular dystrophy, an early onset form that usually begins in childhood (Best disease) and an adult onset form that typically begins in mid-adulthood.
Best disease is caused by a change (mutation) in the BEST1 gene. The condition is inherited in an autosomal dominant manner, meaning a mutation in only one of the two copies of the gene a person has is enough to cause the condition. There is currently no cure for Best disease and treatment typically consists of providing support for vision loss. If your child has been diagnosed with Best disease, talk with their doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by Best disease.