Occlusion de l’artère centrale de la rétine associée à une neuropathie optique ischémique antérieure secondaire à une mutation du facteur V Leiden : à propos d’un cas

Elleuch, Issam; Sayadi, Sana; Rahali, N.; Dridi, Tarek; Zbiba, W.

doi:10.1016/j.jfo.2019.08.020

Cited by 1 publication

(1 citation statement)

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“…The FVL mutation has been associated with retinal vein occlusion, mainly in young patients without identifiable cardiovascular risk factors [ 2 ]. The association of FVL with retinal artery occlusion, ischaemic optic neuropathy, or combined vascular occlusions has been scarcely described [ 2 – 5 ]. We herein describe a case of the FVL mutation manifesting with CRVO associated with unilateral cilioretinal artery occlusion, BRAO, and ischaemic optic neuropathy followed by CRVO in the second eye.…”

Section: Introductionmentioning

confidence: 99%

Heterozygous factor V Leiden mutation manifesting with combined central retinal vein occlusion, cilioretinal artery occlusion, branch retinal artery occlusion, and anterior ischaemic optic neuropathy: a case report

et al. 2022

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Background Our purpose was to describe a patient who developed combined central retinal vein occlusion (CRVO), cilioretinal artery occlusion, branch retinal artery occlusion (BRAO), and anterior ischaemic optic neuropathy (AION) followed by CRVO in the second eye because of the heterozygous factor V Leiden (FVL) mutation. Case presentation A 39-year-old female with a history of recurrent pregnancy losses presented with acute blurred vision in the right eye (RE), with visual acuity limited to counting fingers. She was diagnosed with combined impending CRVO, cilioretinal artery occlusion, BRAO, and AION. The results of thrombophilia testing, not including the FVL mutation, were negative. Retinal atrophy with vascular attenuation and optic disc pallor developed after resolution of acute retinal findings. Nine months after initial presentation, the patient developed an impending CRVO in the left eye (LE), with a secondary progression to a complete CRVO causing a decrease in best corrected visual acuity (BCVA) to 20/40. The patient was determined to be heterozygous for the FVL mutation. She subsequently was treated with acenocoumarol. At the last follow-up visit, the BCVA was 20/400 in the RE and 20/20 in the LE, and there was a complete resolution of the acute CRVO findings in the LE. Conclusion Our case shows that the heterozygous FVL mutation may manifest with combined retinal vascular occlusion involving multiple sites in both eyes. Early recognition of such an inherited thrombophilic disorder is important because it implies the need for long-term anticoagulative therapy to reduce the patient’s risk of recurrent, sight-threatening and life-threatening thrombotic events.

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Section: Introductionmentioning

confidence: 99%