Fundus findings in chronic granulomatous disease

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease that has been reported to present with various chorioretinal findings, predominantly in men. We report a case of a 17-year-old girl with a known diagnosis of CGD referred to the ophthalmology clinic for evaluation of an inflamed pingueculum. Upon clinical examination and ophthalmic imaging, high-quality montage fundus photographs demonstrated a wide array of bilaterally asymmetric chorioretinal findings known to be characteristic of the ophthalmic manifestations of CGD, including chorioretinitis and focal subretinal granuloma. This report also adds to the body of evidence that the chorioretinal findings associated with this disease have the potential to worsen over time.