[Ocular manifestations in chronic granulomatous disease]

Abstract

Chronic granulomatous disease (CGD) is a rare genetic immune deficiency due to defective oxygen metabolism in phagocytic cells. It results in recurrent severe bacterial and fungal infections in patients from an early age on. Inflammatory lesions are also observed, with the formation of granulomas. Diagnosis relies on the demonstration of a deficiency in the oxidative properties of phagocytes. Pulmonary infections are the most frequent clinical manifestations of the disease, yet all organs can be involved, such as the eye, with either infections or inflammatory chorioretinal lesions. The treatment of CGD relies on prophylaxis to avoid infections, and on the rapid management of infectious and inflammatory episodes. The only cure to date is allogenetic bone marrow transplant, which requires a compatible donor and can only be considered in certain clinical situations.

Keywords: Chorioretinal lesions; Chronic granulomatous disease; Déficit immunitaire; Granulomatose septique chronique; Immunodeficiency; Infections récidivantes; Lésions choriorétiniennes; NADPH oxidase; NADPH oxydase; Recurrent infections.