Chorioretinal Findings as the Initial Presentation of Chronic Granulomatous Disease

Area of Science:

• Ophthalmology
• Immunology
• Pediatrics

Background:

• Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder.
• CGD is characterized by recurrent, severe infections due to impaired phagocyte function.
• Ocular manifestations in CGD are rare but significant.

Observation:

• A 4-month-old infant presented with poor vision.
• Ocular examination revealed macular and perivascular chorioretinal fibrosis, atrophy, and peripheral retinal nonperfusion.
• The infant also experienced recurrent infections.

Findings:

• The infant was diagnosed with chronic granulomatous disease (CGD).
• Chorioretinal lesions enlarged over time without active inflammation or neovascularization.
• CGD diagnosis was confirmed through appropriate laboratory testing.

Implications:

• CGD should be considered in the differential diagnosis of pediatric patients with unexplained chorioretinal lesions.
• Ocular findings can be the initial presentation of CGD.
• Prompt diagnosis and management of CGD are essential to prevent life-threatening infections.