Ophthalmic Findings of Rosai-Dorfman Disease

Michael B. Choi, Diva R. Salomão, Wendy M. Smith, Jose S. Pulido, James A. Garrity

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)164-172
Number of pages9
JournalAmerican journal of ophthalmology
StatePublished - Apr 2018

ASJC Scopus subject areas

  • Ophthalmology


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