Choroidal mass as the first presentation of Erdheim-Chester
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis that was initially described by William Chester and his tutor, the Viennese pathologist Jakob Erdheim, in 1930. A 54-years-old Caucasian male presented to the Retina Clinic with a suspect of choroidal melanoma in the left eye. His past medical history included hypertension and unspecific pain in his lower extremities. The patient sought medical attention after experiencing photopsias in the left eye, and upon examination of the fundus in the left eye, his ophthalmologist detected the presence of a solid lesion along the inferior arcades.

An ultrasound was performed measuring the lesion with a thickness of 6 mm and a longer axis of 11 mm; fluorescein angiography detected early staining of the lesion with late leakage in the context of subretinal fluid surrounding it. A brain and orbit MRI did not detect any satellite lesions, and the lesion appeared hyperintense in T1- and hypointense in T2-weighted images. The patient was referred to Cleveland Clinic Abu Dhabi with a diagnosis of choroidal melanoma.

Based on clinical and imaging findings, the presenting diagnosis of choroidal melanoma was discarded. The presence of anterior chamber and anterior vitreous cells, along with cystoid macular edema, pointed towards a uveitic process, and the choroidal mass was identified as “granuloma”. A complete laboratory work-up was performed. ACE and Quantiferon GOLD turned out negative, and a chest x-ray showed only smoking-related changes. CT showed that the lungs were clear of granulomas, the exam showed an abnormal eccentric thickening of segments of the aorta and an asymmetric posterior thickening of the origin of the left subclavian artery.

Source: American journal of ophthalmology case reports

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