Chorioretinal Findings as the Initial Presentation of Chronic Granulomatous Disease.

To describe a case of chronic granulomatous disease (CGD) with ocular lesions as the presenting findings. An ocular examination of a 4-month-old male infant with poor vision revealed punched-out macular and perivascular chorioretinal fibrosis and atrophy with peripheral retinal nonperfusion. Subsequently, he was hospitalized for recurrent infections and was diagnosed with CGD. Repeated examination demonstrated enlargement of the chorioretinal lesions without evidence of active inflammation or neovascularization. CGD causes recurrent, severe, life-threatening infections in children and should be considered in the differential diagnosis of chorioretinal lesions with peripheral retinal nonperfusion. .