Abstract
PURPOSE: To describe clinical features of the youngest patient with well-documented HLA-A29-positive birdshot chorioretinopathy (BCR). OBSERVATIONS: A 17-year-old female presented with poor night vision and floaters. Examination revealed bilateral vitritis, retinal vasculitis, and numerous cream-colored ovoid lesions in the fundus. Fluorescein angiography revealed bilateral optic disc leakage, large vessel leakage and diffuse capillary ferning. There were hundreds of small hypocyanescent spots evenly distributed in the posterior pole of both eyes on indocyanine green angiography. Workup was positive for HLA-A29.2. Systemic immunosuppression with adalimumab 40mg/0.4mL was initiated every two weeks and escalated to weekly dosing. The patient's early age of disease onset prompted evaluation of her parents. The mother's exam was normal and she was HLA-A29 negative. Examination of the father revealed peripapillary choroidal lesions as well as hypocyanescent spots on ICG. HLA-typing revealed the presence of HLA-A29.2. CONCLUSIONS AND IMPORTANCE: BCR rarely occurs in the pediatric population. We present the youngest patient with well-documented BCR in the literature to highlight that this disease deserves consideration even in young patients. Interestingly, choroidal lesions were also found in an asymptomatic parent with HLA-A29.2 positivity.