D2.389 - Optic disc swelling in Common variable immunodeficiency, two cases from a small U.K. cohort

Common variable immunodeficiency (CVID) is an umbrella diagnosis with a broad variation in clinical phenotype. In addition to hypogammaglobulinemia and increased infection burden, patients are at risk of lymphoproliferative disorders, autoimmunity and multi-organ involvement with granulomatous inflammation. Ophthalmological complications are generally rare, but there are few case reports of patients with CVID developing granulomatous uveitis with optic disc swelling (1, 2). 

Here we present two cases from a small CVID cohort with isolated optic disc swelling.

Case one

45-year-old male patient diagnosed with CVID aged 42, after presenting with pneumonia and found to be panhypogammaglobulinaemic. He had associated lymphadenopathy and splenomegaly. One year after diagnosis, he developed an enlarged blind spot in his left eye, retinal screening showed bilateral optic disc swelling. Neuroimaging was normal. Lumbar puncture was not consistent with infection and had a normal opening pressure ACE was mildly elevated. Screening for autoimmune and infective causes was negative.

Case Two

33-year old male patient diagnosed with CVID at age 26 with associated lymphadenopathy, splenomegaly and immune thrombocytopenic purpura. Routine optician review found asymptomatic bilateral optic disc swelling. Lumbar puncture showed a normal opening pressure and negative extended infection screen. He remains asymptomatic, but optic disc swelling persists.

In a relatively small cohort in England, we have two patients with complex CVID presenting with bilateral optic disc swelling with no other underlying cause identified. There are a handful of case reports of more severe presentations involving granulomatous uveitis. Optic disc swelling may be an under-reported phenomenon, particularly in complex CVID, however significant uncertainties persist regarding aetiology and management of this relatively rare complication.

(1)Harsum, Steven E et al. “CVID causing a granulomatous uveitis and optic disc neovascularisation mimicking sarcoid.” Eye 23 (2009): 241-242.

(2) Cohen VML, Lee JA, Egner W, et al  Bilateral granulomatous uveitis in association with common variable immunodeficiency British Journal of Ophthalmology 2001;85:625.