A previously healthy 15-year-old Hispanic male born at full term presented to our emergency department complaining of blurry vision in his right eye with dark spots for 3 days. He denied eye pain or photopsias. He endorsed a history of an approximate 100-pound weight loss over the previous 6 months, fevers, fatigue, epigastric pain, and frequent nonbloody vomiting. He reported an intermittent erythematous macular rash on his arms, legs, and belly but sparing his palms and soles. He was born in the United States and had no recent travel history.
His vision was 20/30-2 in the right eye and 20/20 in the left eye. Intraocular pressure and anterior segment examination were within normal limits. No neovascularization of the iris, anterior chamber cell, or vitreous cell was noted. Dilated fundus examination showed mild blurring of the optic disk margins, scattered intraretinal hemorrhages, some of which were Roth spots, and mild tortuosity of the retinal vessels in the right eye. These findings appeared consistent with a CRVO in the right eye. The left eye appeared normal.
The following day, he reported sudden worsening vision in the right eye. Visual acuity declined to 20/200 in the right eye, and fundus examination showed worsening of the baseline retinal findings (Figure 1). Fluorescein angiography confirmed the diagnosis of a nonischemic CRVO (Figure 2). Optical coherence tomography showed lack of cystoid macular edema (Figure 3).
The patient was admitted to the pediatrics service, which conducted a thorough evaluation for his ocular and systemic symptoms. Extensive diagnostic testing was performed, and consultations were obtained from the infectious disease, hematology/oncology, cardiology, neurology, and rheumatology services.
Blood cultures and serology studies excluded an infectious etiology, including syphilis, tuberculosis, HIV, toxoplasmosis, Bartonella disease, and Lyme's disease. An echocardiogram revealed no cardiac vegetations or a patent foramen ovale but showed left ventricular dilation, trivial aortic insufficiency, and mild mitral regurgitation, which cardiology attributed to a panvalvitis/pancarditis because of his underlying inflammatory process.
Laboratory results were consistent with a normocytic anemia, thrombocytopenia, and hyperbilirubinemia. He had an elevated erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), prothrombin time (PT), partial thromboplastin time (PTT), and immunoglobulin levels, whereas levels of Factor VII and IX were low. Factor V Leiden was negative. Triglyceride and homocysteine levels were normal. Serological markers of systemic lupus erythematosus, sarcoidosis, Wegener's granulomatosis, and polyarteritis nodosa were negative.
A peripheral blood smear showed reactive inflammatory cells without evidence of malignancy. A bone marrow biopsy showed hypocellular bone marrow and was not consistent with an oncologic process. Lupus anticoagulant and anticardiolipin IgG and IgM antibodies returned markedly positive.
A magnetic resonance imaging of the brain and orbits and a magnetic resonance venography study did not show vascular occlusions or other abnormalities. Neurologic testing showed no deficits other than his vision loss. A computed tomography of the chest was suggestive of small infarcts of the lower lung lobes. Computed tomography of the abdomen showed innumerable ill-defined small hypoenhancing lesions in the liver. A positron emission tomography scan revealed hypodense regions in the liver that likely represent regions of vasculitis with thrombosis.
Treatment recommendations from the rheumatology service included IVIG infusion and 3 days of intravenous Solumedrol followed by maintenance on oral prednisone. He was also placed on systemic anticoagulation.
On hospital Day 8, the patient reported diminished vision in his right eye. Visual acuity declined to bare light perception in the right eye. Examination showed worsening of the CRVO and the development of an ophthalmic artery occlusion (Figure 4). An optical coherence tomography scan showed diffuse macular edema and retinal thickening (Figure 5). He was medically stabilized and discharged home on anticoagulation and immunosuppressive therapy with outpatient ophthalmology follow-up. No acute ophthalmic intervention was indicated, as he had no evidence of neovascularization, and intravitreal bevacizumab was deferred given his underlying medical issues.
The patient, however, was subsequently lost to follow-up and returned approximately 8 months later complaining of pain in the right eye. He was found to have neovascular glaucoma and underwent prompt panretinal photocoagulation and an intravitreal bevacizumab injection. Despite repeated efforts to reach his family, he was lost to follow-up thereafter. Review of his medical record showed that he was admitted to the pediatrics service about 1 month later for chest pain. Cardiology deemed his symptoms to be due to myocarditis. Evaluation by the rheumatology service during this hospitalization showed persistently elevated levels of lupus anticoagulant and anticardiolipin IgG and IgM antibodies and positive beta 2-glycoprotein antibodies. Reinvestigation by the pediatrics and rheumatology service for an underlying etiology was unrevealing. This led to a diagnosis of primary APS by rheumatology. No ophthalmology consultation from pediatrics was made during this hospitalization.