Isolated Intraocular Rosai-Dorfman Disease

Abstract

Background/aims: To report a case of Rosai-Dorfman disease (RDD) presenting as a solitary, choroidal mass, initially suspicious for uveal melanoma, in a 72-year-old woman.

Methods: Retrospective case report of a single patient.

Results: A 72-year-old woman presented with sudden vision loss in the right eye. A month prior, visual acuity was 20/40, but she was noted to have a choroidal mass confirmed with B-scan ultrasonography. Patient's vision deteriorated significantly a month later and a shallow retinal detachment was newly noted. Magnetic resonance imaging was obtained, demonstrating a hyperintense intraocular tumor on TI imaging. Patient underwent enucleation of the right eye for suspicion of a uveal melanoma. Pathology revealed a mixed cellular infiltrate with histiocytes, some exhibiting emperipolesis. Macrophage immunohistochemical stains were positive, while melanocytic markers were negative. A diagnosis of RDD was made. Subsequently, the patient had a negative workup for systemic involvement. A final diagnosis of intraocular RDD without extraocular and systemic involvement was determined.

Conclusion: We describe a rare presentation of RDD as a solitary choroidal mass in an elderly patient with overlapping features of uveal melanoma. Definitive diagnosis could only be made on histology. RDD should be considered in the differential diagnosis of a choroidal lesion in the elderly.

Keywords: Choroidal tumor; Emperipolesis; Histiocytosis; Rosai-Dorfman.

Fig. 1

Photomicrograph shows a serous retinal detachment associated with a lentiform mass in the suprachoroidal space. Hematoxylin-eosin, 40× stitched.

Fig. 2

Photomicrograph reveals lesion is composed of diffuse mixed inflammatory cells, consisting of lymphocytes, plasma cells, and large irregular histiocytes (a); histiocytes exhibit intermediate sized nuclei with vesicular chromatin pattern, one or several nucleoli without significant cytologic atypia, and containing focally intracytoplasmic lymphocytes (emperipolesis; b, c). a Hematoxylin-eosin, 100×. b, c, Hematoxylin-eosin, 400×.

Fig. 3

IHC stains reveal S100 (a), CD68 (b), and CD163 (c) positivity within the histiocytes and negativity for CD1a (d), HMB45 (e), and Melan-A (f). a S100, 200×. b CD68, 100×. c CD163, 100×. d CD1a, 100×. e HMB45, 200×. f Melan-A, 200×.