Purpose To describe a patient with combined central serous chorioretinopathy and achromatopsia. Methods Clinical examination, enhanced depth imaging- optical coherence tomography, fundus autofluorescence, fluorescein angiography and electroretinography were used to study a 33-year-old female presented with the complaint of poor vision since childhood in both eyes, which worsened in the left eye (LE) recently. Results In slit-lamp examination, there was a macular elevation in the LE and macular pigmentary change as well as optic disk pallor in both eyes. Enhanced depth imaging optical coherence tomography revealed central inner/outer segment (IS/OS) disruptions, subretinal fluid and thick choroid. Accessory tests included the full-field ERG with severe reduced photopic response (with relatively normal scotopic responses) and fluorescein angiography (FA), which found distinct leakage points in OD and barely visible hyperfluorescent spots in OS. Based on the history of nystagmus, lifelong stable poor vision, loss of foveal cone thickness with IS/OS disruption and severe reduced photopic response with relatively normal scotopic responses, we determined that the diagnosis was most consistent with achromatopsia (ACHM). On the other hand, OCT and FA findings show the simultaneous occurrence of pachychoroid-related central serous chorioretinopathy in this patient. Conclusion This case highlights a case of CSC and ACHM.
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