Abstract
Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by a genetic defect in the NADPH oxidase complex of phagocytic cells. Recent reports indicate that chorioretinal lesions are more common than previously suspected. In this study, ocular findings of CGD patients are described with particular emphasis on chorioretinal lesions as a potentially serious ocular complication of CGD.
Medical records of CGD patients attending an immunodeficiency clinic at a tertiary care center from January 2004 to December 2006 were reviewed. Patients underwent full ophthalmologic examination. Patients with chorioretinal lesions were investigated for various causes of chorioretinitis. Molecular studies for common CGD-causing genes were performed in patients with chorioretinal lesions.
This cohort included 32 CGD patients: 14 (44%) had abnormal eye findings, 11 (34%) had anterior segment disease, and 4 (12.5%) had chorioretinal lesions. Posterior segment findings consisted of uniformly similar hypopigmented atrophic punched-out chorioretinal scars around the arcades and mid-equator sparing of the macula. One patient had exudative hemorrhagic total retinal detachment in the right eye. Two siblings with chorioretinal lesions had mutation in CYBB, an X-linked gene. Another patient carried a missense mutation in NCF2, causing autosomal-recessive disease.
While ocular manifestation is common in CGD, chorioretinal lesions seem less frequent. However, they present potential risk of visual loss; it is recommended that patients undergo regular ophthalmologic examinations. This report provides further evidence that chorioretinal lesions occur not only in X-linked, but they can also occur in the autosomal-recessive form of CGD.