A 28-year-old female was referred with progressive left visual loss to no perception of light. She had a background history of smoking, alcohol excess, treated pulmonary tuberculosis, traumatic joint dislocations, hypertension, and dilated cardiomyopathy. The patient was of Pacific Islander ethnicity. There was no clear family history of aneurysm, organ rupture, or joint hypermobility.
The patient first presented to another ophthalmologist with left retrobulbar headache and proptosis, with normal optic nerve function at the time. Magnetic resonance imaging (MRI) scan of the orbits demonstrated a tubular tortuous intraconal enhancing lesion in the left orbit. A conservative approach was adopted, but the patient failed to attend her subsequent follow-up appointments. Four months later, she presented to her local emergency department with at least a 2-week history of severe progressive left visual loss. Computed tomography (CT) venogram at this point reported a single left orbital vascular lesion with no evidence of thrombosis. She was then referred urgently for a formal ophthalmic assessment.
On examination, her visual acuity was no perception of light in the left eye and 6/5 in the right. Intraocular pressures were normal. There was a left relative afferent pupillary defect, and a 3-mm relative proptosis measured with a Hertel-style exophthalmometer, which did not increase with Valsalva maneuver. Ocular motility showed mildly reduced left abduction. Anterior segment examination was normal. Posterior segment examination demonstrated temporal optic disc pallor on the left and grade 2 hypertensive retinopathy bilaterally. The OCT retinal nerve fiber layer was unable to be obtained for the left eye due to poor fixation, but there was evidence of ganglion cell atrophy at the left macula. OCT findings for the right eye were consistent with hypertensive changes.
After review of her CT and MRI, a primary orbital arterial or arteriovenous anomaly with subsequent thrombotic or ischemic sequelae was suspected. She was admitted for a trial of intravenous methylprednisolone 1 g daily for 3 days for any inflammatory component of her left optic neuropathy. Digital subtraction angiography demonstrated a slow-filling, tortuous dilated aneurysm of the entire intraorbital segment of the left ophthalmic artery (shown in Fig. 1a) corresponding to the left orbital vascular structure seen on CT (shown in Fig. 1b) and MRI. In addition, digital subtraction angiography demonstrated multifocal vascular abnormalities including other intracranial and extracranial fusiform aneurysms (shown in Fig. 2). Nonspecific vasculopathy, collagen-vascular anomalies, and large vessel vasculitis were all considered; CT angiogram of the chest, abdomen, and pelvis was performed, and it did not demonstrate additional vascular abnormalities. Autoimmune screen including complement C3, C4, rheumatoid factor, cyclic citrullinated peptide antibodies, antineutrophil cytoplasmic antibodies, extractable nuclear antigen antibodies, antinuclear antibodies, and double-stranded DNA antibodies was normal.
The patient's visual acuity remained as no perception of light despite a trial of methylprednisolone. No other specific interventions were pursued, given that the damage to her left optic nerve was deemed irreversible. Her antihypertensive regimen was optimized, and she was counseled regarding smoking cessation and alcohol intake reduction by drug and alcohol services. Genetic testing was strongly recommended to investigate genetic syndromes including polycystic kidney disease, fibromuscular dysplasia, connective tissue disease, neurocutaneous syndromes, and vasculitis, but the patient declined to proceed. Follow-up appointments by ophthalmology, neuro-interventional radiology, complex vascular anomaly service, cardiology, medical genetics, and rheumatology were planned. However, the patient has failed to attend any of her scheduled specialist appointments at the time of writing despite efforts from multiple specialties to make contact.