Erdheim‐Chester disease with bilateral choroidal infiltration

Abstract

Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis that was first described by Jakob Erdheim and William Chester in 1930. ECD frequently involves multiple systems, such as the skin, bone and central nerve system. The diagnosis of ECD is made by identifying typical histopathological findings in the context of clinical and radiological features, including the infiltration of foamy or lipid-laden histiocytes and positive immunohistochemical staining for CD68. Ocular manifestations have been documented in 25% to 30% of ECD patients, mainly presenting as xanthelasma in the eyelid and infiltration of the orbit. Patients with orbital involvement may complain of exophthalmos, retro-orbital pain or blurring of vision. ECD rarely involves intraocular structures and only less than 10 cases have been reported to date. We hereby described a case of ECD woman with concurrent bilateral choroidal and orbital infiltrates. A 41-year-old woman presented with progressive visual decrease and intermittent pain in her right eye for 2 years. Her ocular history was unremarkable, but she had a history of diabetes insipidus and recurrent pain in her bilateral lower extremities for 5 years. At presentation, her bestcorrected visual acuity was finger count on the right and 20/20 on the left. Intraocular pressure was within the normal range. Hertel exophthalmometer measurements were 16 and 19 mm on the right and left side, respectively. External eye examination revealed sporadic xanthoma in her right eyelids (Figure 1A, arrowhead). Fundoscopy showed bilateral yellowish choroidal mass in the posterior pole with overlying pigmentary clumping (Figure 1B,C).