Multimodal chorioretinal imaging in erdheim-chester disease

Purpose: To analyze the subclinical intraocular involvement using multimodal imaging approach in patients affected by Erdheim-Chester disease (ECD) without ocular symptoms. Patients and Methods: In this prospective cross-sectional study, 18 eyes of 9 consecutive patients with ECD were enrolled. Each patient underwent comprehensive ocular examination and extensive multimodal chorioretinal imaging. Results: None of the patients presented any evidence of chorioretinal localization of disease using multimodal imaging. One patient exhibited a choroidal nevus complicated by active polypoidal choroidal neovascularization. Subretinal hyperreflective material was seen in three eyes, mainly resembling acquired vitelliform lesion. One patient had an isolated intraretinal hemorrhage. Most patients exhibited peripheral vascular abnormalities (ie, micro-aneurysms, peripheral vascular leakage). Fundus autofluorescence showed faint hyperauto-fluorescence in eleven eyes. Conclusion: Intraocular involvement is an extremely rare event of an extremely rare disease. In patients affected by ECD without ocular symptoms, advance multimodal imaging examinations did not show signs of subclinical chorioretinal involvement related to the disease.