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Posterior Segment Findings in X-Linked Chronic Granulomatous Disease Online Only

Nora Khatib, MD1; Petros E. Carvounis, MD, FRCSC1
[+] Author Affiliations
1Baylor College of Medicine, Houston, Texas
JAMA Ophthalmol. 2015;133(8):e151149. doi:10.1001/jamaophthalmol.2015.1149.
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This case report describes chorioretinal lesions in a patient with X-linked chronic granulomatous disease.

X-linked chronic granulomatous disease (CGD) is an immunodeficiency disorder that affects phagocytes because of an abnormality in the NADPH oxidase system that is characterized by recurrent systemic infections with bacterial and fungal pathogens. Our patient presented with a visual acuity of 20/20 OU, normal anterior segment examination findings in each eye, and fundus examination findings as described (Figure). Family history of CGD had prompted a dihydrorhodamine flow cytometry test, which confirmed the diagnosis. This test indirectly measures reactive oxygen species levels, a byproduct of NADPH oxidase. Previous reports13 of patients with CGD have described chorioretinal lesions as hypopigmented, atrophic punched-out scars in a perivascular pattern and in the midequatorial region, sparing the macula. The lesions are seen in a few patients with CGD (12%-35%).24 The lesions are typically nonprogressive but may lead to decreased vision due to vitreous hemorrhage, neovascular membranes, and macular edema; therefore, routine examination is recommended.3,4 The cause of the posterior segment lesions remains unclear.13

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Fundus photograph showing extensive well-demarcated chorioretinal scars involving the retina, retinal pigment epithelium, and choroid. The scars were in the peripapillary and midperiphery areas but spared the macula in a 20-year-old man with X-linked chronic granulomatous disease.

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