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

Abstract

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.

Keywords: Anterior ischaemic optic neuropathy; Case report; Central retinal vein occlusion; Cilioretinal artery occlusion; Factor V Leiden mutation.

Fig. 1

Fundus photograph of the right eye shows a few superficial and deep intraretinal haemorrhages, cotton-wool spots, and dilated tortuous veins. There was also optic disc swelling and ischaemic retinal whitening in the posterior pole inferotemporally along a cilioretinal artery and in the superonasal quadrant

Fig. 2

Fluorescein angiography of the right eye shows delayed filling of the cilioretinal artery (A) and of the superonasal branch retinal artery (B). Also note the filling defect in the inferior part of the optic disc at the early phase (A) and the late staining at the late phase (C)

Fig. 3

Macular SS-OCT scan through the area of retinal whitening shows hyperreflective band-like lesions in the middle retina

Fig. 4

A Fundus photograph of the RE nine months after initial presentation shows the presence of diffuse optic disc pallor and the resolution of acute retinal changes with diffuse attenuation of the cilioretinal artery and retinal arterioles. B Fundus photograph of the LE shows diffuse tortuosity and dilatation of retinal veins consistent with impending CRVO. C Vertical macular SS-OCT scan of the RE shows thinning and atrophy of the inner nuclear layer. D OCT angiography of the RE shows marked vascular alterations involving the deep capillary plexus with significant projection artefacts from the superficial vascular plexus on the attenuated deep retinal capillary plexus

Fig. 5

Eight weeks later, impending CRVO of the LE progressed to complete CRVO (A) with associated moderate central macular thickening on SS-OCT (B)

Fig. 6

Fundus photograph of the LE shows complete resolution of the acute CRVO findings in the LE