Best Disease

Best disease is an inherited form of macular dystrophy that causes a gradual loss of central vision, usually starting in childhood or young adulthood.

Common symptoms

Gradual blurring and distortion of central vision, difficulty reading or recognising faces, while side vision usually remains good.

Description

Best disease, also known as vitelliform macular dystrophy, is an inherited condition that affects the macula, the central part of the retina. It is caused by changes in the BEST1 gene, which disrupts how cells at the back of the eye clear waste products.

The condition typically develops through several stages over many years. In early stages, vision may be unaffected despite changes visible at the macula. Over time, a yolk-like deposit breaks down, which can lead to scarring and reduced central vision, although peripheral vision is generally preserved.

There is currently no cure, but regular monitoring, low vision aids, and assistive technology can help with reading and other detailed tasks. People with a genetic diagnosis may be eligible to take part in research or patient registries.