Best Disease Presenting as a Giant Serous Pigment Epithelial Detachment

In Brief Purpose: To report a case of Best disease presenting as a giant serous pigment epithelial detachment and misdiagnosed as central serous chorioretinopathy. Methods: Clinical examination and multimodal imaging, including color fundus photography, fluorescein angiography, fundus autofluorescence, and spectral domain optical coherence tomography are presented, as well as the results of electrooculography. Results: A 54-year-old Asian man underwent photodynamic therapy for a large serous pigment epithelial detachment presumed to be due to central serous chorioretinopathy. When the lesion was recalcitrant to therapy, further investigation revealed severely decreased Arden ratios consistent with Best disease. Conclusion: There is a wide spectrum in the clinical presentation of Best disease. Diagnostic uncertainty can be elucidated with fundus autofluorescence, spectral domain optical coherence tomography imaging, electrooculography, and genetic testing. Best vitelliform macular dystrophy is associated with a wide spectrum of clinical presentations including retinal pigment epithelial changes, solitary or multifocal vitelliform lesions, or more atypical presentations such as a giant serous pigment epithelial detachment as seen in this patient. The diagnosis of Best disease in atypical cases can be confirmed using electrooculography and genetic testing.