Ocular granuloma, uveitis and X‐linked chronic granulomatous disease

Abstract

Purpose To report 2 cases of ocular inflammation in patients with chronic granulomatous disease (CGD). Methods A 2‐year old boy was referred for red right eye and fever lasting for one month. A granuloma developed in the anterior chamber of his right eye. A CGD was suspected and the X‐chromosom analysis confirmed a mutation in the gp 91 phox (the b subunit of cytochrome b558). Steroids were associated with antifungals and antibiotics and the granuloma disappeared rapidly. The other caseis about a 22‐year‐old womanknown to be a carrier for X‐linked cytochrome b558‐negative CGD. She presented with a red painful right eye. Slit‐lamp examination revealed a nodular scleritisand, funduscopy disclosed chorioretinal granuloma in nasal periphery (RE). A white active but asymptomatic chorioretinal lesion on the temporal part of posterior pole and perivascular retinal scars were found (LE).She was successfully treated with oral prednisone. Results CGD is a rare inherited disorder of phagocytic cells leading to recurrent life‐threatening bacterial and fungal infections, caused by a defect in the nicotinamide adenine dinucleotide phosphate. The most common molecular defect is a mutation in the cytochrome B, b subunit gene located on the X chromosome encoding for gp91. The most frequent ocular manifestations are juxta vascular chorioretinal lesions, keratitis and conjunctivitis. Current therapy for CGD is based on antimicrobial prophylaxis, early and aggressive treatment of infections. Conclusion Ophthalmologists must be aware of the different ocular localisations in CDG that may be the presenting symptoms.