Background: Autosomal recessive bestrophinopathy is an autosomal-recessive disorder that is caused by a mutation in bestrophin-1 (BEST1). At times, it can be difficult to differentiate this disorder from central serous chorioretinopathy (CSC).
Cases: Two cases of autosomal recessive bestrophinopathy clinically mimicking CSC (one case was presumed as autosomal recessive bestrophinopathy). Serous retinal detachment and subretinal yellow lesions were observed in the macula of both eyes in both cases. Fundus autofluorescence revealed oval hyperfluorescence with round lesions in the margin. These findings were clearer in the autofluorescence image obtained using ultra-wide field scanning laser ophthalmoscopy. Optical coherence tomography indicated serous retinal detachment and disrupted discontinuous photoreceptor outer segments in the upper side of the macula. The choroid was thick, and dilated choroidal vessels were visible. Fluorescein angiography revealed a mild leakage, and indocyanine-green angiography showed no signs of choroidal vascular hyperpermeability or choroidal neovascularization. Based on these findings, autosomal recessive bestrophinopathy was suspected. Whole exon sequencing revealed BEST1 mutation in one of the cases, and this patient was finally diagnosed with autosomal recessive bestrophinopathy.
Conclusion: When it is difficult to differentiate CSC from autosomal recessive bestrophinopathy, fundus autofluorescence imaging and genotyping are useful procedures that can aid in the diagnosis.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 126: 751-759,2022.