Abstract
Purpose :
Rosai-Dorfman disease (RDD) is a rare, proliferative histiocytic disorder that may have ophthalmic findings. The purpose of this case series was to describe the ophthalmic, pathologic, and BRAF V600E mutation status of RDD patients with ocular involvement.
Methods :
Mayo Clinic electronic records were searched for all patients with RDD from 1992 to 2016 using the search terms “Rosai-Dorfman Disease” and “Sinus histiocytosis with massive lymphadenopathy”. The 158 results were narrowed by manual review to 76 patients with a confirmed diagnosis of RDD; 15 of these had eye exams and 8 had ocular involvement and were included in this case series. Clinical and pathological findings were reviewed. Immunostain for BRAF and molecular studies for BRAFV600E mutation were performed.
Results :
There were 5 females and 3 males. In comparing RDD patients with ocular involvement (n=8) versus RDD patients without ocular involvement (n=7), the median age was 42 (15-70) years and 56 (32-79) years and median logMAR visual acuity was 0.048 (0.000-1.824) and 0.000 (-0.124-0.301), respectively. Patients with ocular involvement presented with either epibulbar/intraocular masses (n=4) or orbital masses (n=4). In the first group, all patients had multi-organ disease including tracheal, aortic, renal, skeletal, and soft tissue lesions. In the second group, 2 patients had no systemic involvement, 1 had skeletal involvement only, and 1 had multi-organ disease. Tissue biopsies were performed in all orbital and epibulbar masses. BRAF immunostaining and molecular studies were negative in all available specimens (n=6). In one patient with an intraocular mass involving the pars plana, the mass completely resolved after 6 cycles of vinblastine and etoposide.
Conclusions :
In this study, RDD patients with epibulbar/intraocular masses had more systemic involvement compared to patients with orbital masses. Patients with ocular involvement tended to be younger and had worse visual acuity. Ophthalmic RDD does not seem to be associated with BRAF mutation. To the best of our knowledge, we have the first case reported of an intraocular RDD mass resolving with chemotherapy.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.