Best disease, also called Best vitelliform macular dystrophy, is an inherited eye condition that affects the macula, the central area of the retina responsible for detailed vision. It typically causes a build-up of yellowish material under the retina and progressive changes in central vision.
Features
Best disease often starts in childhood or adolescence but may not cause noticeable symptoms until later. Examination can reveal a characteristic egg-yolk-like lesion in the macula that may break up and evolve through several stages over time.
- Usually inherited in an autosomal dominant pattern
- Central vision may be blurred or distorted, while peripheral vision remains relatively preserved
- Electrophysiological tests such as EOG can support the diagnosis
- Both eyes are generally affected, though severity can differ
Course and Management
There is no cure for the underlying genetic change, but regular monitoring helps detect complications such as choroidal neovascularisation that may be amenable to treatment. Low vision support, appropriate lighting, and visual aids can help people adapt to central vision loss.
- Genetic counselling may be offered to affected families
- Children of an affected parent have an increased chance of inheriting the condition
- Progression is variable, and some individuals retain useful vision for many years
- Assistive technology can support reading and near tasks
