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Visual loss occurs in up to 8% of patients with Wegener's granulomatosis (WG) during the disease lifetime,1 although only a small proportion of these cases are the result of central retinal artery occlusion (CRAO). We describe an unusual case of a patient with bilateral CRAO as a presenting feature of WG and α1 antitrypsin (AAT) deficiency.
A 58 year old white man presented with sudden painless loss of vision to the right eye. Vision was hand movements in the right eye and 6/6 in the left. Funduscopy revealed an acute right CRAO with macular oedema. There were no signs of uveitis or retinal vasculitis. Management consisted of intravenous acetazolamide (500 mg), ocular massage, and anterior chamber paracentesis. He was subsequently sent home with aspirin treatment, and referred to his family doctor for routine risk factors assessment.
The following morning, he returned to the eye casualty department with a left CRAO, which was treated in the same way. Vision was 6/60 in the right eye and hand movements in the left. Systemic inquiry revealed a 2 month history of general malaise, arthralgia, and myalgia. General examination revealed evidence of vasculitic rash (Fig 1) affecting the right elbow and nailfold infarcts (Fig 2). He was admitted for further investigation. His erythrocyte sedimentation rate in the first hour was 128 mm and C reactive protein (171 mg/l) were markedly raised. Liver enzymes were slightly abnormal (γGT, 165 IU/l, ALT, 85, alkaline phosphatase, 153). There were traces of blood and protein in the urine, with a normal creatinine clearance (86 mmol/l). He was commenced on oral prednisolone (60 mg/day) for presumed systemic vasculitis. Normal echocardiography and blood cultures excluded endocarditis. Ultrasound of his carotid arteries was normal. His vision gradually improved, and was recorded 6 days later as 6/12 in the right eye and 6/6 in the left. Patchy peripheral field defects remained.
Subsequently, his serum was positive for cytoplasmic antineutrophil cytoplasmic antibody (cANCA) at a titre of 1/160, confirming the diagnosis of WG. Monthly pulses of intravenous cyclophosphamide were employed, with gradual tapering of oral prednisolone dose. There was also an incidental finding of homozygous AAT deficiency (Z allele) from serum protein electrophoresis.
WG is a rare disease with a reported annual incidence of 8.5 per million population2 in the UK, of which up to 16% present initially with ocular disease.3 CRAO in patients with WG is rare, with only several reported cases3,4 since 1960. Ocular and ocular adnexal involvement is the result of parenchymal necrosis, small vessel vasculitis, and granulomatous inflammation. The orbit may be the site of primary inflammation or become secondarily involved from disease of the paranasal sinuses and nasopharynx. Mechanisms by which visual loss occurs in WG include vascular occlusion, macular oedema, inflammatory destruction of retina, optic nerve, or corneoscleral tissue.3 Systemically, the most commonly affected tissues are the lungs and kidneys. The current therapy for WG is cyclophosphamide (daily or pulse) and corticosteroids. Multicentre trials are in progress to assess the optimum treatment duration for induction, and subsequent maintenance of remission.5
This is the first reported case of bilateral CRAO in WG and AAT deficiency. AAT is normally present in serum and inhibits uncontrolled enzymic destruction of connective tissue during inflammation. Deficiency of AAT results in progressive emphysema and liver injury.6 Research suggests an increased incidence of WG in patients with AAT deficiency.7 The incidence of AAT deficiency has been reported as being significantly increased in patients with anterior uveitis.8 We are not aware of any reports implicating AAT deficiency in CRAO, although it is possible that this is contributing to the ongoing inflammatory process underlying his vasculitis.