Early diagnosis and treatment of histiocytic disorders are essential

A case series looked at the clinical features of histiocytic disorders with orbital, ocular, optic nerve, and cavernous sinus involvement, as well as patient outcomes.

Study design

Investigators conducted an observational, retrospective chart review of 32 adult patients with biopsy-proven histiocytic disorders, including Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), and Rosai-Dorfman disease (RDD), who had ocular, orbital, optic nerve, or cavernous sinus involvement. Patients were diagnosed at a single center between 2006 and 2021.


Seven patients had LCH, 15 had ECD, and 8 had RDD; the other 2 patients had mixed disorders. BRAF status was evaluated in 19 patients, and 14 were found to have V600E mutation (none of these patients had RDD). Ocular involvement was detected in 8 patients, while orbital involvement was detected in 27 patients. Orbital and cavernous sinus involvement was more frequent in ECD, while ocular involvement was more frequent in RDD. Ophthalmic manifestations were the first presenting feature in the majority of patients with ocular disease. Systemic disease was present in most patients, particularly those with ECD. While patients received a variety of treatments, including medications, radiation, and surgery, the response to treatment was variable.


Since this was a retrospective study, not all patients received similar ophthalmic evaluations and imaging. In addition, there may be a bias, as all patients were seen at a tertiary care center.

Clinical significance

It is important for ophthalmologists to be aware of the ophthalmic presentation of histiocytic disorders, since early diagnosis and treatment are critical to preserve vision and treat systemic disease to reduce morbidity and mortality. Histiocytic disorders can be very difficult to diagnose, as tissue biopsy is almost always necessary to confirm the diagnosis. Outcomes are improving, with targeted therapy available for patients who harbor the BRAF V600E mutation.

Financial Disclosures: Dr. Richard Allen discloses no financial relationships.

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