To report the optical coherence tomography (OCT) findings of three cases in various stages of juvenile-onset vitelliform macular dystrophy (Best disease).

Medical records of six eyes from three patients diagnosed with Best disease were reviewed retrospectively. We evaluated the clinical features of the fundus, the electro-oculogram, and the optical coherence tomography (OCT) results. In the fundi of the three patients with Best disease, the characteristic stages of vitelliform, pseudohypopyon, and scrambled egg appearance were identified. Optical coherence tomography findings in the eyes of the patients with Best disease showed two types of outer retina-choroid complex (ORCC) changes, including splitting with intervening hyporeflective areas and elevation over hyporeflective area.

The OCT findings showed variable patterns according to the progression of Best disease. In the pseudohypopyon stage, both neurosensory detachment and retinal pigment epithelial detachment appearance were identified. The exact location of the resulting lesions seems to depend on the relative impediment of fluid movement caused by the mutation of bestrophin.