A 32-year-old female presented to our hospital's emergency service with progressive, painless vision loss in her left eye lasting for 2 days. She was diagnosed with FMF based on her clinical complaints, familial history, and physical and laboratory examinations 2 months ago. She was started on oral colchicine therapy. She had no other history of systemic and ocular disease. Her best-corrected visual acuity (BCVA) was 20/20 in the right and there was light perception in the left eye, respectively. Intraocular pressure was in normal limits in both eyes. Slit lamp examination disclosed few cells in anterior chamber (+1) and anterior vitreous (+1) in the left eye. Fundus examination revealed perivascular, white, severe, and continuous sheathing of vascular structures starting from optic disc and extending to periphery. Veins were dilated and tortuous. Intraretinal hemorrhages in all quadrants, papillary edema, and subhyaloid hemorrhage in macular area were also observed (Figure 1). The ophthalmologic examination of the right eye was normal. Fluorescein angiography (FA) revealed dilated and tortuous veins and blockage of fluorescein due to retinal hemorrhages. Arteriovenous transit time was in normal limits. FA showed no venous stasis/occlusion and dye leakage at earlier phases. Later phases of FA could not be displayed because the patient had syncope and systemic hypotension at the second minute of FA.
Laboratory investigations, including complete blood count, electrolytes, plasma proteins, urea, creatinine, angiotensin converting enzyme, C-reactive protein, erythrocyte sedimentation rate (ESR), autoimmune markers (anti-cardiolipin antibodies, anti-neutrophil cytoplasmic antibodies, antinuclear antibody, antimitochondrial antibody, rheumatoid factor, anti-double-stranded DNA, anti-single-stranded DNA, anti-scl-70 antibodies, and anti-jo-1 antibodies), and antibody titers for HIV, CMV, HSV, EBV, syphilis, rubella, and toxoplasmosis were performed. Herpes simplex type 1 Ig G and rubella Ig G were positive. ESR was slightly high. Results of all other tests were in normal limits or negative. Cranial magnetic resonance imaging and chest X-ray were also normal. Genetic investigation revealed homozygous MEFV gene mutation (M964V) supporting FMF diagnosis. She had no clinical and laboratory signs of lymphoma, leukemia, sarcoidosis, tuberculosis, multiple sclerosis, systemic lupus erythematosus, Behcet's disease, and other autoimmune diseases.
Systemic treatment of 64 mg/day oral methylprednisolone was started. Two days after the treatment, visual acuity of the left eye increased to 20/400. Cellular reaction of anterior chamber and vitreous disappeared. However, vascular sheathing, retinal hemorrhages, and subhyaloid premacular hemorrhage had no obvious change. One week after previous visit, fundus examination revealed significant improvement in the papillary edema, sheathing of vascular structures, and retinal hemorrhages. Visual acuity had no change due to subhyaloid premacular hemorrhage (Figure 2). Argon laser posterior hyaloidotomy was performed to the inferior part of the subhyaloid hemorrhage and the blood flowed through the hyaloidotomy to the vitreous cavity. Just after that the laser therapy visual acuity was 20/60. One week after hyaloidotomy, visual acuity significantly improved to 20/20 and dislocated intravitreal hemorrhage disappeared. Methylprednisolone was gradually tapered to 4 mg/day over 2 months.
Four months after first FBA attack, she presented to our retina department with a complaint of blurred vision for 2 days. Her BCVA was 20/20 in the right and 20/25 in the left eye, respectively. Biomicroscopy of anterior segment revealed anterior chamber (cells +1) and anterior vitreous inflammation (cells +1) in the left eye. Vascular sheathing and preretinal and intraretinal hemorrhages that were limited to superior peripheral retina were noted in the left eye (Figure 3). Oral methylprednisolone dosage was increased to 64 mg/day. Because the patient developed a "moon face" due to corticosteroid use and a recurrence of retinal vasculitis occurred, a decision for immunosuppressive therapy has been made. Corticosteroid treatment was combined with azathioprine 150 mg and methylprednisolone dosage was gradually tapered. Clinical findings of retinal vasculitis subsided over time and no other recurrences were noted during subsequent follow-ups. At her last visit performed in the 12th month of follow-up, the BCVA was 20/25 in the left eye. Biomicroscopy of anterior segment was normal. Fundus examination and optic coherence tomography showed epiretinal membrane formation around the fovea.