CHOROIDAL INFILTRATION IN ERDHEIM-CHESTER DISEASE: A CASE SERIES

We describe two cases of choroidal involvement in patients with Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis.

Short case series.

The first patient was a 25-year-old man with asymptomatic ECD at the level of bones, lung, and central nervous system. Fundus examination revealed bilateral yellowish choroidal infiltration in the superior macula and nasal midperiphery. After initial mild enlargement of the choroidal lesions, treatment with weekly subcutaneous pegylated interferon α2a was started inducing partial regression of the lesions. The second patient was a 45-year-old man with ECD involving the left orbit, maxillary sinus, heart, blood vessels, kidney, retroperitoneum, bones, and testes. Fundus examination of the left eye showed choroidal folds. Macular spectral-domain optical coherence tomography confirmed the folds and revealed underlying choroidal infiltration. Final ocular diagnosis was left choroidal, scleral, and orbital involvement. The patient was initially treated with pegylated interferon α2a, and later with cobimetinib, a Mitogen-activated protein kinase kinase inhibitor, with favorable results. Neither patient developed choroidal neovascularization during the follow-up.

Erdheim-Chester disease is a rare multisystem disorder that can present with ocular involvement, including orbital masses, xanthelasma-like lesions, and, occasionally, choroidal infiltrates. Early recognition and prompt treatment can lead to improvement of ophthalmic and systemic symptoms and prevent further complications. We recommend treating patients with choroidal ECD, regardless of the presence of symptoms, considering these patients are at increased risk of developing choroidal neovascularization.