UNILATERAL BEST DISEASE: A CASE REPORT.
OBJECTIVE
To describe the multimodal imaging findings observed unilaterally in a patient with Best disease due to a p.G15D mutation in the BEST1 gene.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
*Vitreous-Retina-Macula Consultants of New York, New York, New York; †The LuEsther T. Mertz Retinal Research Center, New York, New York; ‡Department of Ophthalmology, New York University School of Medicine, New York, New York; §Singapore National Eye Center, Singapore Eye Research Institute, Singapore, Singapore; and ¶NJ Retina, New Jersey.
Talia R
TR
Kaden
Anna C S
AC
Tan
Leonard
L
Feiner
K Bailey
KB
Freund
D020256:Choroidal Neovascularization / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D064847:Multimodal Imaging; D012163:Retinal Detachment / Q000473:pathology; D055213:Retinal Pigment Epithelium / Q000473:pathology; D057826:Vitelliform Macular Dystrophy / Q000473:pathology*