Multimodal Chorioretinal Imaging in Erdheim-Chester Disease

Area of Science:

• Ophthalmology
• Rare Diseases
• Medical Imaging

Background:

• Erdheim-Chester disease (ECD) is a rare systemic non-Langerhans cell histiocytosis.
• Ocular involvement in ECD is uncommon, and subclinical manifestations are poorly understood.

Purpose of the Study:

• To investigate subclinical intraocular involvement in Erdheim-Chester disease (ECD) patients using a multimodal imaging approach.
• To assess the presence of chorioretinal disease in asymptomatic ECD patients.

Main Methods:

• Prospective cross-sectional study involving 18 eyes from 9 consecutive ECD patients.
• Comprehensive ocular examination and advanced multimodal chorioretinal imaging were performed.

Main Results:

• No evidence of chorioretinal localization of Erdheim-Chester disease was found using multimodal imaging.
• Peripheral vascular abnormalities were common; other findings included choroidal neovascularization, vitelliform lesions, and hemorrhage in a few eyes.
• Faint hyperautofluorescence was observed in most eyes on fundus autofluorescence.

Conclusions:

• Intraocular involvement is an extremely rare manifestation of Erdheim-Chester disease.
• Advanced multimodal imaging did not detect subclinical chorioretinal involvement related to ECD in asymptomatic patients.