Choroidal mass as the first presentation of Erdheim-Chester disease

Abstract

Purpose To describe a choroidal mass that proved to be histiocytic choroidal infiltration in Erdheim-Chester disease. Observations A 54-years-old Caucasian male presented to our Retina Clinic with a suspect of choroidal melanoma in the left eye. Dilated fundus exam of the left eye showed a yellow-grey lesion along the inferior arcade, with sub-retinal fluid clinically visible. Enhanced depth imaging-OCT (EDI-OCT) showed a dome-shaped choroidal lesion with hyperreflective exudation present between the inner retina and the retinal pigment epithelium (RPE). On fundus autofluorescence the lesion appeared to have a diffuse speckled hyper-autofluorescent pattern secondary to the exudative subretinal material. On ultrasound, the lesion appeared hyper-echoic and dome-shaped, with a baseline thickness of 6.13 mm. Indocyanine green angiography (ICGA) was performed and showed hypocyanescence of the lesion from the early phases that persisted through the whole exam. Chest CT with contrast showed an abnormal, non-calcific, eccentric thickening of segments of the aorta (“coated aorta”) and PET an abnormally strong labeling of the distal ends of the long bones. An additional proximal tibial biopsy was performed to confirm the diagnosis on histology of Erdheim-Chester disease and the patient was started on oral prednisone. The choroidal mass progressively shrunk and the subretinal exudative material on top partially reabsorbed. Conclusions and importance Intraocular involvement in Erdheim-Chester disease is extremely rare but as a result of recent better awareness the number of new diagnosis is increasing. Erdheim-Chester disease should be considered in the differential of every choroidal mass.

Erdheim-Chester disease: look it in the eye. An orbital magnetic resonance imaging study

“…Case reports and very small patient series have resulted in descriptions of ophthalmological symptoms such as reduced visual acuity or exophthalmos associated with ECD-ROD, which is often the first clinical manifestation of the disease. 10,11,22,27,28 In our study, ophthalmological symptoms (exophthalmos) helped to reveal the disease in only a small proportion of cases. Visual acuity seemed to be generally well preserved (89% had a visual acuity ≥6/10), but no data were available concerning retinal nerve fiber layer thickness/visual field.…”

An Amelanotic Choroidal Lesion in a 68-Year-Old Man

“…Ophthalmic manifestations include infiltration of the eyelids, orbit, optic nerve, cornea, choroid, and retina . Chorioretinal infiltration is a rare presentation of ECD and often appears as yellow or yellow-white lesions that can be associated with subretinal fluid, as in this patient. The retinal pigment epithelium can show pigmentary changes and atrophy that create a speckled hyperautofluorescent and hypoautofluorescent appearance similar to the leopard-spotting presentation in this patient .…”

Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report

“…31,32 Intraocular findings have been described only in a handful of cases and include anterior uveitis, vitritis, choroidal infiltration, optic disc edema, cystoid macular edema, recurrent serous retinal detachment, retinal drusenlike deposits, and retinal pigment epithelial changes. [33][34][35][36][37] Visual symptoms are reported in 3% of patients overall who are diagnosed with ECD and 23% of those with central nervous system involvement. 38,39 Ophthalmic complaints may be the presenting sign of central nervous system disease, manifesting as cranial nerve palsy, strabismus, diplopia, and nystagmus.…”