Central retinal artery occlusion (CRAO) is generally an entity that affects older patients, but can present earlier in those with coagulation disorders, cardiac defects, and in hyperviscocity states. We describe a novel case of a 16-year-old boy who presented with sudden painless unilateral vision loss and was found to have a CRAO. Transesophageal echocardiogram revealed a small fenestrated atrial septal defect that was closed via a cardioform septal occluder. Cardiac defects must be considered in the differential diagnosis of all patients with retinal vascular occlusions, especially in the pediatric population.
A 16-year-old obese boy with no significant medical or ocular history presented with acute, unilateral, nonprogressive painless loss of vision in the right eye of 5 days' duration. He denied recent illness, head or neck trauma, photopsia, and floaters. Family history included diabetes mellitus in his mother and paternal grandmother. He denied smoking, alcohol consumption, and drug use and had no pets. On examination, he had good carotid and subclavian pulses without carotid bruits or cardiac murmur. His body mass index was 30.1 (97th percentile).
The visual acuity was hand motions in the right eye and 20/20 in the left eye without correction. He had a right afferent pupillary defect and the intraocular pressures were 12 mm Hg in the right eye and 14 mm Hg in the left eye. Anterior segment examination was unremarkable, but funduscopy revealed a cherry red spot and scattered intraretinal hemorrhages with mild macular edema in the right eye (Figure 1). Intravenous fluorescein angiography showed poor arterial filling in the right eye, with flow beginning at 22.8 seconds (Figure 2). He was diagnosed as having a CRAO and sent to the hospital for expedited work-up.
Fundus photograph of the right eye demonstrating intraretinal hemorrhages and a “cherry red spot.”
(A) Intravenous fluorescein angiography of the right eye with delayed arterial flow beginning at 22.8 seconds. (B) Fluorescein angiography at 28.6 seconds outlining intraretinal hemorrhages and enlarged foveal avascular zone.
Laboratory studies including erythrocyte sedimentation rate, C-reactive protein, complete blood count, coagulation studies, antinuclear antibody screen, rapid plasma reagin, and rheumatoid factor were all normal. Bilateral carotid ultrasound showed no stenosis, and magnetic resonance imaging/magnetic resonance angiography of the brain and orbits demonstrated no abnormalities. Electrocardiogram revealed sinus rhythm with right axis deviation and possible right ventricular hypertrophy. A 17-mm fenestrated atrial septal defect with left-to-right shunt was seen on transesophageal echocardiogram (Figure 3A), which was closed via a cardioform septal occluder (Figure 3B) with no residual shunt at the end of the procedure.
(A) Transesophageal echocardiogram displays a right-to left shunt through the atrial septal defect. (B) Transesophageal echocardiogram after percutaneous closure of the atrial septal defect.
The mean age of presentation in patients with a CRAO is the early 60s, with embolism as the most common etiology; therefore, risk factors are similar to those of other thromboembolic diseases (hyperlipidemia, smoking, diabetes mellitus, hypertension, and male gender).1 In younger patients, coagulopathy,2 autoimmune disease,3 and cardiac defects4 may contribute to earlier onset. Interestingly, however, a significant number of pediatric patients will have negative results on medical work-ups, leaving the etiology idiopathic.5 Prognosis is generally guarded, with the majority of patients in the counting fingers to hand motions range of vision6 unless a cilioretinal artery is present.
In those patients with CRAO and a cardiac defect, patent foramen ovale is the most common7; in fact, this persistence of normal fetal communication between the right and left atria is found in 25% to 27% of the population and generally represents an incompetent valve.8 On the other hand, atrial septal defect is a less common and more severe entity consisting of a true defect in the atrial septum and is present in approximately 1 in every 770 births each year in the United States.9 These patients are at an increased risk of stroke from a variety of mechanisms, including paradoxical embolism, development of atrial fibrillation, and procedures designed to close the defect.10 Although closing larger defects has been shown to prevent long-term sequelae, the closure of small (less than 5 mm) defects is somewhat controversial unless paradoxical embolism is suspected or cardiovascular complications arise.11
Although the presence of a patent foramen ovale has been reported in association with retinal artery occlusion,4,12–14 review of the English language literature revealed only one other case associated with an atrial septal defect and cryptogenic embolus in a 32-year-old patient.15 Possible explanations for the difference in reported cases of patent foramen ovale versus atrial septal defect in retinal artery occlusions include the lower overall prevalence of atrial septal defect and the fact that atrial septal defect has a lower cryptogenic stroke risk than patent foramen ovale,16 due in part to the thrombogenic nature of the patent foramen ovale flap.17
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