Original article
Ophthalmic Findings of Rosai-Dorfman Disease

https://doi.org/10.1016/j.ajo.2018.01.037Get rights and content

Highlights

  • Ophthalmic manifestations included orbital, epibulbar, and intraocular masses.

  • Patients with ophthalmic involvement tended to be younger with worse visual acuity.

  • Patients with intraocular masses had widespread systemic disease.

  • BRAF mutation does not seem associated with ophthalmic Rosai-Dorfman disease.

Purpose

To describe the ophthalmic, pathologic, and BRAF V600E mutation status of Rosai-Dorfman disease (RDD).

Design

Retrospective case series.

Methods

A retrospective review of all cases of RDD seen at Mayo Clinic from 1992 to 2016 identified patients with ophthalmic manifestations (n = 8). Immunostain for BRAF and molecular studies for BRAF V600E mutation were performed on cases with tissue available.

Results

Of 76 patients with RDD, 15 had eye examinations; of those, 8 (5 female and 3 male) had ophthalmic manifestations. In RDD patients with ophthalmic manifestations compared to RDD patients without ophthalmic manifestations, the respective median (range) age in years was 42 (15-70) and 56 (32-79) (P = .13) and median (range) logMAR visual acuity was 0.048 (0.000-1.824) and 0.000 (−0.124 to 0.301) (P = .19). Of the 8 patients with ophthalmic manifestations, 4 had ocular involvement and 4 had orbital masses. Patients with ocular involvement had multiorgan disease including tracheal, aortic, renal, skeletal, and soft tissue lesions (n = 4). Patients with orbital masses had no systemic involvement (n = 2), skeletal involvement only (n = 1), or multiorgan disease (n = 1). BRAF immunostaining and molecular studies were negative in all available specimens (n = 6).

Conclusions

In this series of patients with ophthalmic manifestations of RDD, those with ocular involvement had multiorgan disease while those with orbital masses had more limited systemic disease. Patients with ophthalmic manifestations tended to be younger and have worse visual acuity. Additionally, ophthalmic RDD does not seem to be associated with BRAF mutation.

Section snippets

Methods

This study complied with the Health Insurance Portability and Accountability Act and was approved by the Mayo Clinic Institutional Review Board. Mayo Clinic electronic records were searched for all patients with RDD diagnosis from January 1, 1992 to December 31, 2016. The search terms used were “Rosai-Dorfman disease” and “sinus histiocytosis with massive lymphadenopathy.” A total of 158 patients were narrowed by manual chart review of clinical notes and pathology reports to 76 patients with

Results

During a 24-year period at Mayo Clinic, the terms “Rosai-Dorfman disease” or “sinus histiocytosis with massive lymphadenopathy” appeared in the medical record of 158 patients. Of these 158 patients, 76 (48.1%) had a diagnosis of RDD, of which 67 patients had tissue confirmation with biopsy performed at Mayo Clinic, 6 patients had tissue confirmation with biopsy done elsewhere, and 3 patients had only clinically presumed RDD diagnosis without tissue confirmation.

In the other 82 patients (51.9%),

Discussion

Over a period of 24 years at Mayo Clinic, 76 patients were diagnosed with RDD. Patients with other neoplastic, histiocytic, and infectious disorders may have initially been diagnosed and confused with RDD, particularly patients with Erdheim-Chester disease, B-cell lymphoma, Hodgkin lymphoma, and xanthogranuloma. Notably, many patients in whom the diagnosis of RDD was considered or initially given ultimately did not receive a conclusive diagnosis for their condition.

Eight of the 76 patients

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