Electrooculography and optical coherence tomography reveal late-onset Best disease

Best vitelliform macular dystrophy, also known as Best disease, is a macular dystrophy characterized by bilateral yellowish egg yolk-like lesion(s) present within the maculae. It is a slowly progressive disease that usually presents at childhood. Best vitelliform macular dystrophy frequently proceeds through stages, beginning with a classic presentation described as vitelliform. A similar condition, known as adult-onset foveomacular vitelliform dystrophy, has been described among adult patients. Although the two maculopathies may look similar, they are considered two separate entities, because of the age of onset and overall clinical presentation.

A 54-year-old man presented with gradual-onset blurred near vision in each eye. Previous records showed a history of unremarkable dilated fundus examinations for the past 8 years. Best-corrected distance acuities measured 20/20 OD and 20/20 OS. Amsler grid testing revealed a mild metamorphopsia OD and OS. Dilated fundoscopy revealed macular pseudohypopyon in each eye. In vivo imaging of the maculae was obtained with spectral-domain optical coherence tomography findings. Electrooculography findings were consistent with Best vitelliform macular dystrophy of atypical, late onset.

Best vitelliform macular dystrophy may vary in its presentation. Electrooculography and spectral-domain optical coherence tomography can aid in establishing the definitive diagnosis.