Choi MB, et al. - The researchers designed this study to describe the ophthalmic, pathologic, and BRAF V600E mutation status of Rosai-Dorfman Disease (RDD). Findings revealed that RDD patients with ocular involvement had multi-organ disease while those with orbital masses had more limited systemic disease. Patients with ophthalmic manifestations tended to be younger and had worse visual acuity. Additionally, there appeared no association of ophthalmic RDD with BRAF mutation.

Methods

• All cases of RDD seen at Mayo Clinic from 1992 to 2016 were retrospectively reviewed; RDD patients with ophthalmic manifestations (n=8) were identified.
• On cases with tissue available, immunostain for BRAF and molecular studies for BRAFV600E mutation were performed.

Results

• Researchers identified 76 patients with RDD.
• Of these,15 had eye exams; 8/15 had ophthalmic manifestations (5 females and 3 males).
• RDD patients with ophthalmic manifestations vs RDD patients without ophthalmic manifestations had the median age (in years) of 42 (15-70) vs 56 (32-79) (p=0.13) and median LogMAR visual acuity of 0.048 (0.000-1.824) vs 0.000 (-0.124-0.301) (p=0.19), respectively.
• Four showed ocular involvement and 4 had orbital masses among the 8 patients with ophthalmic manifestations.
• They noted multi-organ disease including tracheal, aortic, renal, skeletal, and soft tissue lesions among patients with ocular involvement (n=4).
• In this study, patients with orbital masses showed no systemic involvement (n=2), skeletal involvement only (n=1), or multi-organ disease (n=1).
• In all available specimens, BRAF immunostaining and molecular studies were negative (n=6).