Common variable immunodeficiency associated with birdshot-like chorioretinopathy.

Common variable immunodeficiency (CVID) is a primary hypogammaglobulinemia. It is associatedwith autoimmunephenomena, such as cytopenia, Sjögren syndrome, inflammatory bowel disease, and arthritis. There have been a number of reported cases of autoimmune disorders that involve the retina in association with CVID. Birdshot retinochoroidopathy is a rare, chronic disorder that typically occurs in otherwise healthy patients with amean age of 50 years that is classified as an inflammatory multifocal chorioretinopathy. The pathogenesis of this disorder is unknown, although its treatment (ie, steroids and other immunosuppressive drugs) and the presence of retinal S-antigens in afflicted patients suggest an organ-specific autoimmune origin. The retinal characteristics are described as small, multiple, white-spotted lesions in the fundus, and patients most often present with decreased vision, floaters, and glare. We present what we believe to be the second report of a patient with CVID and birdshot-like retinochoroidopathy.1 The 25-year-old patient had a history of CVID that was diagnosed when shewasa child. She initially presented to our clinic as a teenager with multiple episodes of hemolytic anemia and immune thrombocytopenia with recurrent infections for which she was treated with intravenous g-globulin (IVIG) (400 mg/kg every 3 weeks) on an episodic basis for 15 years. Later, she developed persistent diarrhea that prompted a colonoscopy biopsy revealed T-cell infiltrates of her entire gut that resembled graft-vs-host disease. Serum immunoglobulin levels gradually decreased below 2 SDs of normal, and we began monthly g-globulin therapy. Unfortunately, we transitioned to subcutaneous immunoglobulin therapy after port complications made peripheral access unavailable.Weekly subcutaneous g-globulin treatmentwas administered for approximately 12months (100mg/kg per week), but the patient became nonadherent with her treatment. During this time of nonadherence, the patient experienced dimness of sight. HLA-A29 and B5 test results were negative. Serum immunoglobulin measurement revealed an IgG level of 320 mg/dL (reference range, 800-1500 mg/dL), IgA level of 25 mg/dL (reference range, 90-325 mg/dL), and IgM level of 20 mg/dL (reference range, 45-150mg/dL) after 12months of intermittent subcutaneous g-globulin. She had been followed up by a retina specialist who diagnosed birdshot-like retinopathy and used intraocular steroid injections for serous retinal detachment. Examination did not reveal anterior chamber or vitreous inflammation. Her visual acuity fluctuated, but after 2 months of IVIG nonadherence, visual acuity measured 20/15 in the right eye and 20/300 in the left eye. Although the patient began IVIG therapy again and received photodynamic therapy, the retinal insult did not resolve. As time evolved, her liver enzyme levels acutely increased; the patient developed liver failure and subsequently died.