Ocular ischemic manifestations in fibromuscular dysplasia

Purpose: To report visual, clinical and radiological outcomes of three patients with fibromuscular dysplasia (FMD) that presented different ocular ischemic events, supported by different multimodal imaging. Methods: A retrospective study including patients who attended a tertiary referral hospital from July 2016 to June 2019 referring acute visual loss and later diagnosed of FMD. Ophthalmological examination included best corrected visual acuity (BCVA), biomicroscopy, fundoscopy, fluorescein angiography (FA), and macular and retinal nerve fiber layer spectral domain optic coherence tomography (SD-OCT). Patients were admitted by the Neurology service, completing the study with blood and cerebrospinal fluid (CSF) test, serology and cultures, cerebral magnetic resonance angiography (angioMRI), and arteriography. Results: Three patients were included; one male and second females. All referred unilateral acute visual loss, with BCVA of counting fingers or hand-motion. Relative afferent pupilar defect was present in all patients. Two patients associated neurological focal signs and one had chronic hypertension. Fundoscopy revealed hemorrhages and exudates in all patients, and the typical sign of “string-of-beads” in one. FA showed dye filling delay and macular and peripheral hypofluorescence. SD-OCT revealed acute and chronic retinal ischemic signs. Blood and CSF tests, serologies and cultures resulted negative. All presented cerebral vascular involvement, objectified in the cerebral angioMRI or arteriography. Conclusions: FMD should be considered in cases with unilateral sudden visual loss associated to neurological focal deficits in young patients. The typical “string-of-beads” image is rare in small arteries such as the retinal vasculature. When suspected, a complete ophthalmological examination and cerebral vascular imaging is essential to confirm the diagnosis.