Chorioretinal, iris, and ciliary body infiltration by juvenile xanthogranuloma masquerading as uveitis

Juvenile xanthogranuloma is a benign cutaneous disorder which occasionally involves the eye, orbit, and ocular adnexa in children. Iris and ciliary body manifestations are commonly seen, but retinal and choroidal lesions are exceedingly rare. We report a unique case of retinal, choroidal, iris, and ciliary body infiltration in a 12-year-old patient diagnosed by excisional biopsy of the iris. The diagnosis was confirmed by routine histology and oil-red-o staining. Immunohistochemistry revealed predominantly macrophages, monocytes, and T-helper lymphocytes. Unusual features of this case include the late age at diagnosis, posterior pole involvement, and lack of cutaneous lesions. The presence of cellular adhesion molecules and T lymphocytes implicate a lymphocyte-driven inflammatory process. Apolipoprotein A was the predominant apolipoprotein present within the foamy histiocytes. We also present a critical review of the literature.