Adult-onset bestrophinopathy mistaken as central serous chorioretinopathy

To highlight cases of adult-onset bestrophinopathy mistaken as central serous chorioretinopathy (CSCR).

Retrospective case series.

Two unrelated adult males (54 years old and 43 years old) with serous macular detachments were managed as CSCR. One had been treated with intraocular injections and oral mineralcorticoid inhibitors. Independently, each had an 8-year-old son who presented with classic Best disease, which raised suspicion for bestrophinopathy in their fathers. Bestrophin sequencing confirmed each son to be heterozygous for a pathogenic variant, and targeted testing confirmed each respective father to harbor the same heterozygous pathogenic variant as his son. Electro-oculography of the first father-son pair confirmed decreased Arden ratios. Review of multimodal imaging of the adult patients revealed a hyper-autofluorescent edge surrounding a serous macular detachment by short-wave autofluorescence and shaggy photoreceptors on the overlying edge of serous detachments by optical coherence tomography.

Adult-onset bestrophinopathy can be mistaken as CSCR. Multimodal imaging findings, examination of potentially affected family members, electrophysiology, and genetic testing facilitate the correct diagnosis.