Sir,

Common variable immunodeficiency (CVID) is the second commonest form of primary immunodeficiency in the Caucasian population with a prevalence of approximately 1:20,000. CVID follows a granulomatous course in approximately 10% of patients, and this can mimic sarcoidosis.1 We report a case of CVID causing a granulomatous uveitis with optic disc neovascularisation and vitreous haemorrhage.

Case report

A 27-year-old lady, with known CVID diagnosed at age 17, and receiving weekly subcutaneous antibody infusions, presented to the eye clinic with a 1-month history of a left photophobic red eye associated with gradual loss of vision. On examination, her vision was 6/6 in the right eye and counting fingers in the left eye unaided. She had a mild right anterior uveitis and a marked left anterior uveitis with several large mutton-fat keratitic precipitates, multiple koeppe and busacca nodules, and posterior synechiae formation (Figure 1). Fundoscopy of the left eye revealed a mild vitreous haemorrhage associated with gross disc neovascularisation, a retinal vasculitis, and macular oedema (Figure 2a). Initial blood tests were within the normal range including inflammatory markers, serum ACE, and lymphoma screen. Her chest X-ray revealed bilateral hilar shadowing and a subsequent CT scan confirmed enlarged mediastinal lymph nodes with normal lung parenchyma. This is a common finding in granulomatous CVID.

Figure 1
figure 1

Anterior segment photographs at presentation, showing (a) an injected left eye with a mixture of large mutton-fat and small granulomatous keratatic precipitates (inset). (b) Koeppe (pupil margin) iris nodules with posterior synechiae.

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Figure 2
figure 2

(a) Colour fundus photograph of the left eye at presentation showing retinal vasculitis and disc neovascularisation. Fluorescein angiograms during (b) early and (c) late venous phase. (d) Colour fundus photograph of right eye showing the development of disc swelling 1 month after presentation. Fundus photographs of right (e) and left eyes (f) 2 months after left intraocular steroids, the neovascularisation and disc swelling have resolved.

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She was commenced on oral and topical steroids. However, her vasculitis failed to settle, and 1 month after presentation she began to develop disc swelling in the right eye (Figure 2d). A fundus fluorescein angiogram (FFA) at this stage revealed macular oedema with no evidence of any non-perfusion (Figures 2b and c). She was subsequently given an intravitreal injection of triamcinolone (4mg in 0.1ml) into the left eye. Vision rapidly improved and by 2-month post injection was 6/6 bilaterally and the neovascularisation had almost completely disappeared (Figures 2e and f).

Comment

The diagnosis of CVID is made on the clinical history of recurrent infection, usually of the respiratory tract, in the context of reduced total IgG. Up to 30% of patients develop non-infectious complications including autoimmune disease and malignancy. Patients with CVID have been known to develop conjunctival granulomas, granulomatous anterior and posterior uveitis, multifocal choroiditis, disc swelling, retinal vasculitis, and retinal neovascularisation; all of which are findings in sarcoid.2, 3, 4 We believe this to be one of the most florid cases of retinal vasculitis, and the first to describe disc vascularisation.