Retinal artery occlusion in young patients without typical cardiovascular risk factors: etiologies, prognosis, and suggested work-up

PurposeTo understand the etiology, work-up, and secondary systemic and ocular events of retinal artery occlusion (RAO) in young patients (<= 45 years old) without typical cardiovascular risk factors.MethodsRetrospective longitudinal case series of 18 young patients with RAO and without typical cardiovascular risk factors evaluated at the University of Michigan Medicine Health System between the year 2000 and 2022. Laboratory and imaging studies performed at the time of RAO diagnosis, along with systemic and ocular events during follow-up, were recorded. These data were combined with data from a literature review of 74 similar patients experiencing a RAO.ResultsFifteen (83%) of patients were female and 10 (56%) suffered a branch retinal artery occlusion (BRAO). 56% of patients had one risk factor associated with cryptogenic stroke, most commonly a migraine history (33%). The most frequent etiology of RAO was vasculitis (28%), followed by idiopathic (22%) and patent foramen ovale (PFO, 17%). Three out of four patients with idiopathic RAOs developed new migraines around the time of RAO diagnosis, whereas none of the patients with a clear etiology had new onset migraines (n = 14). No patients suffered a stroke or myocardial infarction (MI) in the follow-up period (average 3.6 years +/- 3.2 years). Two patients (11%) suffered a repeat RAO, both of whom were diagnosed with a vasculitis. Patients with isolated retinal vasculitis required repeat fluorescein angiograms for up to 2 years after the initial event to definitively identify the vasculitic etiology of the RAO. When our data are pooled with similarly healthy patients from previously published RAO series, structural/functional cardiac abnormalities and vasculitides are the most common identifiable etiologies for RAOs in this group.ConclusionThe most common identifiable etiologies of RAO in young patients with low cardiovascular risk are structural/functional cardiac abnormalities and vasculitides, with a small range of additional causes/associations accounting for remaining cases. We suggest a focused work-up algorithm to rapidly identify etiologies in this group while minimizing unnecessary testing. The long-term risk of systemic or ocular secondary events in these patients is low regardless of the etiology of their RAO. What was Known:center dot Retinal artery occlusions (RAOs) in young, healthy individuals are rare, making a data-driven work-up for these patients difficult.What is new:center dot The most common identifiable etiologies for RAO in young, low cardiovascular risk individuals are functional/structural cardiac abnormalities and vasculitides.center dot Several repeat fluorescein angiographic studies may be required to diagnose an occult retinal vasculitis.center dot The long-term risk of secondary systemic or ocular events in young, otherwise healthy individuals is low regardless of the etiology of their RAO.