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¹Asist. Dr., SBU Ulucanlar Eye Research and Training Hospital, Ankara, Türkiye
²Prof. Dr., SBU Ulucanlar Eye Research and Training Hospital, Ankara, Türkiye DOI : 10.37845/ret.vit.2023.32.36 Paracentral acute middle maculopathy (PAMM) is an optical coherence tomography (OCT) finding secondary to retinal ischemia. In this presentation, we describe the diagnosis of hereditary thrombophilia caused by multiple gene mutation, based on the PAMM finding on OCT, in a patient with no known disease who presented with unilateral scotoma. Hematological evaluation has an important role in young PAMM cases without systemic and ocular disease. Patients with thrombophilic mutations may be first recognized with ocular symptoms by ophthalmologists. It may be life-saving to reveal the risks of patients such as cardiovascular disease and thromboembolism at an early age. Keywords : Hereditary thrombophilia, Paracentral acute middle maculopathy, Optic coherence tomography, Retinal ischemia