HLA-A29 negative Birdshot-like chorioretinopathy associated with common variable immunodeficiency

PURPOSE: To report the longest ophthalmic follow-up and the associated ocular complications of HLA-A29 negative Birdshot-like chorioretinopathy (BLCR) associated with common variable immunodeficiency (CVID). OBSERVATIONS: A 22-year-old man known for CVID presented with a 3-month history of decreased visual acuity OS. Funduscopy revealed significant cystoid macular edema OS, as well as optic disk edema and chorioretinal infiltrates without signs of vitritis OU. No infectious, inflammatory or neoplastic etiologies were identified. He subsequently received one dose of intravitreal triamcinolone OS which completely resolved the macular edema. The optic nerve edema persisted despite the addition of intravenous immunoglobulin. His visual acuity was 20/20 OU at the 24th follow-up month. CONCLUSION: and importance: To our knowledge, this is the third case of HLA-A29 negative BLCR associated with CVID. It is the first case with long-term follow-up providing, in consequence, the best understanding of the natural history and possible complications of this rare disease. Aggressive systemic treatment, in collaboration with an immunologist, is generally needed to control the ophthalmic complications.