To describe the multimodal imaging findings observed unilaterally in a patient with Best disease
due to a p.G15D mutation in the BEST1 gene
The clinical history of a 62-year-old female patient with unilateral Best disease
was reviewed. Retinal findings were documented by clinical examination and multimodal imaging.
Posterior segment examination of the patient's right eye demonstrated retinal pigment epithelium hypopigmentation and clumping in the central macula beneath a chronic shallow serous retinal detachment
(SRD), confirmed by optical coherence tomography. Fluorescein angiography showed central staining with no evidence of focal leakage or choroidal neovascularization, and correlated with the hypoautofluorescence seen on fundus autofluorescence. There was no evidence of choroidal hyperpermeability on indocyanine green angiography, nor was there any neovascularization detected on optical coherence tomography–angiography. The left eye appeared normal with all imaging modalities.
Conclusion: Best disease
is an autosomal dominant disease that is generally bilateral. We present a case of a unilateral Best disease
with serous retinal detachment
in a patient with a p.G15D mutation in BEST1. Best disease
should be considered in the differential diagnosis of serous retinal detachment
and may masquerade as central serous chorioretinopathy