Central serous chorioretinopathy and achromatopsia: a case report
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CLINICAL CASE REPORT
Central serous chorioretinopathy and achromatopsia: a case report Alireza Mahmoudi . Sahar Berijani . Fatemeh Bazvand . Farid Adelpour . Hassan Khojasteh
Received: 10 January 2020 / Accepted: 5 May 2020 Ó Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract 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
A. Mahmoudi S. Berijani F. Bazvand F. Adelpour H. Khojasteh (&) Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Qazvin Square, South Kargar Street, Tehran 1336616351, Iran e-mail: [email protected]
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 pachychoroidrelated central serous chorioretinopathy in this patient. Conclusion This case highlights a case of CSC and ACHM. Keywords Achromatopsia CSCR EDI-OCT Full-field ERG
Introduction ACHM is a rare autosomal recessive disorder, also known as rod monochromacy, characterized by loss of cone cell function, classically presenting loss of color discrimination, photophobia, infantile pendular nystagmus and reduced visual acuity often less than 20/200. Although signs and symptoms vary depending on the amount of residual cone function, visual acuity is usually stable over time [1–3] Despite many studies in achromatopsia, to the best of our knowledge, no study has been conducted on the choroidal thickness or pachychoroid spectrum disease. This study aims to report a case of CSC and ACHM and to describe the comprehensive image findings using FA and EDI-OCT.
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Fig. 1 Fundus photograph of RE shows almost unremarkable findings except for mild macular pigmentary change and disk pallor. An area of mild macular hyperpigmentation and a zone of elevation in the infratemporal of the macula exist in LE
Fig. 2 EDI-OCT demonstrates a sub-fov
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