Familial Mediterranean fever associated frosted branch angiitis, retinal vasculitis and vascular occlusion

Abstract

Objectives: To analyse the entity of retinal vasculitis, including frosted branch angiitis (FBA), or retina vascular occlusion in patients with familial Mediterranean fever (FMF).

Methods: Retrospective collaborative case series using invitation by email to uveitis specialists around the Mediterranean basin. This series was combined with a literature review. Exclusion criteria included infectious diseases, Behçet's disease or other autoimmune diseases.

Results: A total of 16 patients (21 eyes) had FMF and retinal vasculitis (FBA 11 patients, mild retinal vasculitis 5 patients). The mean age at onset of vasculitis was 29.5 ± 13.4 (range 9-62) with a female to male ratio of 9 to 7. In 19 eyes treated with various forms of corticosteroid and/or immunosuppression, the mean initial spectacle-corrected visual acuity improved from 6/194 to 6/10.5 at the last mean follow-up of 29.0 ± 34.9 months (p < 0.001). The most common FEVR mutations were M680I and M694V. In addition, retinal vascular occlusions included one case of central retinal artery occlusion and one case of branch retinal artery occlusion.

Conclusion: FBA and milder forms of retinal vasculitis are associated with FMF. Therapy involves an increase in colchicine dosage in early cases, a long period of oral corticosteroid, intravitreal dexamethasone implant or periocular corticosteroid in select cases, and combination therapy with systemic immunosuppression in severe cases. FMF needs to be included in the differential diagnosis of retinal vasculitis.

Fig. 1. Comparison between a color fundus montage and a fluorescein angiographic image of the posterior pole.

Frosted branch angiitis of the left eye in a 31-year-old Caucasian woman with FMF (case 1) of one-year duration and visual recovery from hand motion to 6/7.5 (20/25) after 2 years of oral corticosteroid with azathioprine.

Fig. 2. Comparison between a color fundus image and a fluorescein angiographic image of the posterior pole.

Frosted branch angiitis of the left eye in two Caucasian sisters with FMF (Case 5 top, Case 6 bottom). FMF was diagnosed at age 2 years in both sisters. The parents and grandparents are first cousins. FBA responded to oral corticosteroids tapered over 6–8 months with the recovery of vision.

Fig. 3. Comparison between a color fundus image and a fluorescein angiographic image of the posterior pole.

Frosted branch angiitis in the right eye of a 33-year-old Caucasian woman with FMF (Case 11) initial vision of 6/480 (20/1600) improving to 6/15 (20/50) up to the last follow-up 36 months after a single intravitreal dexamethasone implant.