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Chronic granulomatous disease (CGD) is a rare disorder of phagocytic inability to produce the respiratory burst needed to kill ingested micro-organisms.1 CGD typically presents early in life with recurrent life threatening bacterial and fungal infections and tissue granuloma formation.2 Prophylaxis with systemic antibiotics, antifungals, and interferon γ have been shown to significantly reduce infections.1,2 Ocular involvement occurs in about 25% of CGD patients. We report the clinicopathological findings of a subretinal CGD lesion.
A 4 year old boy developed recurrent, cultured positive, cutaneous bacterial infections (Serratia spp). Four years later, ocular examination revealed 20/200 in the right eye and 20/50 in the left eye, bilateral moderate vitritis, retinal oedema and pigmentary clumps, multiple chorioretinal scars, and a large chorioretinal scar in the left eye. Despite transient improvement on antibiotics and systemic and periocular corticosteroids, his vision became worse with persistent vitritis and retinal exudation in the left eye. Six months later the patient was found to have an abnormal nitroblue tetrazolium test diagnostic of …
Financial support: Intramural program of the National Eye Institute, NIH.
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