Purpose: To describe a patient with ocular manifestations secondary to common variable immunodeficiency.
Methods: A 17-year-old adolescent girl presented with asymptomatic bilateral optic disk edema and chorioretinal infiltrates. These findings were noted during routine follow-up visits for hydroxychloroquine use for lymphoid interstitial pneumonia. She underwent a full ophthalmologic and systemic work-up.
Results: At the age of 13, the patient was diagnosed with common variable immunodeficiency with splenomegaly, lymphadenopathy, and lymphoid interstitial pneumonia. Progressive generalized lymphadenopathy developed thereafter. Since the diagnosis of common variable immunodeficiency, she received monthly intravenous immunoglobulin, systemic corticosteroids and later on, oral hydroxychloroquine. Annual routine screening visits to exclude retinal hydroxychloroquine toxicity were unremarkable until age 17. Unaided visual acuity was 6/5 in both eyes. Slit-lamp examination was normal, whereas fundoscopy revealed bilateral optic disk edema and birdshot-like chorioretinal infiltrates, without signs of vitritis. A bilateral hot disk was seen on fluorescein angiography, but there were no signs of vasculitis. Indocyanine green angiography showed macular and midperipheral choroidal granulomas. A brain magnetic resonance imaging scan revealed no signs of raised intracranial pressure. Human leukocyte antigen-typing was negative for HLA-A29, making birdshot chorioretinopathy highly unlikely. The results of a work-up for sarcoidosis were not typical of that disease. During the past months, a remarkable episode of lacrimal gland swelling with spontaneous recovery was noted.
Conclusion: We describe a case of ocular manifestations of common variable immunodeficiency, including asymptomatic bilateral chorioretinal granulomas mimicking birdshot chorioretinopathy, combined with optic nerve sheath infiltration, and lacrimal gland involvement.