Can You Guess January's Mystery Condition?
Make your diagnosis in the comments, and look for the answer in next month’s Blink.
Last Month’s Blink
Chronic Granulomatous Disease
Written by Troy Teeples, MD, and Niranjan Manoharan, MD. Photos by Pamela Rowlett, CRA. All are at the University of Colorado Anschutz Medical Campus, Aurora.
A 7-year-old asymptomatic boy was referred to our clinic for multiple “punched out” chorioretinal lesions in both eyes. The patient was being treated for X-linked chronic granulomatous disease (CGD). He presented with VA of 20/30+ in both eyes. Fundus photos (Figs. 1, 2) showed many scattered small atrophic chorioretinal lesions throughout the periphery. Macular OCT was unremarkable in both eyes. Fundus autofluorescence showed hypoautofluorescence of the scattered chorioretinal scars (Fig. 3), and a fluorescein angiogram revealed hyperfluorescent staining of the lesions but no vascular leakage suggestive of active disease (Fig. 4).
Atrophic chorioretinal lesions have been reported in CGD patients. The prevalence noted in separate case series has varied from 12.5% to 100%; however, a larger study found the prevalence to be closer to 1.9%.1 The pathogenesis of these lesions remains unclear, but bacterial DNA has been found in the chorioretinal lesions of these patients, which suggests septic emboli as a potential cause.2 The lesions also may represent previously active choroidal granulomas or sterile abscesses that continue to invoke an inflammatory response long after the infectious agent has been controlled.
In the setting of active disease, it would be important to evaluate for bacteremia and treat accordingly given the possible infectious etiology of these chorioretinal lesions. However, since there was no evidence of active disease for this patient, he was scheduled for interval dilated exams to monitor for signs of disease progression.
1 van den Berg JM et al. PLoS One. 2009;4(4):e5234.
2 Kim SJ et al. Retina. 2003;23(3):360-365.
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