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Uveitis and a subretinal mass in a patient with chronic granulomatous disease
  1. R R Buggage1,
  2. R M Bauer II2,
  3. S M Holland3,
  4. C I Santos4,
  5. C-C Chan5
  1. 1Laboratory of Immunology, National Eye Institute, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
  2. 2Winn Army Hospital, Fort Stewart, GA, USA
  3. 3Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
  4. 4Department of Ophthalmology, University of Puerto Rico, San Juan, Puerto Rico
  5. 5Laboratory of Immunology, National Eye Institute, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
  1. Correspondence to: Chi-Chao Chan MD, National Eye Institute, National Institutes of Health, 10 Center Drive, Bldg 10, Room 10N103, Bethesda, MD 20892-1857, USA; chanc{at}nei.nih.gov

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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.

CASE REPORT

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 …

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