Ophthalmic Rosai-Dorfman disease: a multi-centre comprehensive study

Abstract

Background: To provide basic demographic information and clinicopathologic features of ophthalmic Rosai-Dorfman disease (RDD) with a literature review.

Methods: A multi-centre retrospective case series reviewing all patients with histopathologically confirmed ophthalmic RDD at three tertiary eye care centres between January 1993 and December 2018.

Results: Eleven eyes of eight patients with histopathologically confirmed ophthalmic RDD were included, with equal numbers of males and females. The median age was 40.25 years (range: 26.6-72.4). Two patients had familial RDD. The orbit was the most commonly involved site (90.9% eyes). One patient (one eye) presented with a scleral nodule, anterior uveitis and cystoid macular oedema. Visual acuity ranged from 20/25 to light perception. Six patients had an extra-nodal ophthalmic disease, and the remaining two had an associated submandibular lymphadenopathy (nodal RDD).

Conclusions: Ophthalmic RDD can be the only manifestation of this systemic disease, with the orbit being the most commonly involved site, exhibiting bone destruction, intracranial and/or sinus involvement and variable degree of visual loss. Ophthalmic familial RDD represent a severe form with a malignant course. Steroid monotherapy may be inadequate to control orbital RDD; thus, combined treatment is usually necessary. A comprehensive approach to assessment and management is recommended.

Keywords: Familial; Histopathology; Lymphadenopathy; Orbit; Rosai–Dorfman disease.

Fig. 1

A External photo of a male patient (case 3) presenting with a left orbital RDD and a significant left axial proptosis. B Axial high-resolution MRI showing bilateral orbital infiltration with right intracanalicular optic nerve encroachment (arrow) in case 2. C External photo of a patient (case 5) with scleral RDD showing inflamed and edematous sclera with conjunctival, superficial and deep episcleral vascular congestion. D Excellent result was observed in case 3 shown in A

Fig. 2

A Aggregates of lymphocytic infiltrate surrounded by histiocytes in a patient having orbital RDD (original magnification × 100, Hematoxylin & Eosin). B Higher power of the collection of lymphocytes with surrounding large histiocytes (original magnification × 400, Hematoxylin & Eosin). C Immunohistochemical staining by S-100 delineating many macrophages engulfing lymphocytes (emperipolesis & lymphocytophagocytosis) for a patient having scleral RDD (original magnification × 400). D Another histopathological photo from a patient with orbital RDD showing a typical histiocyte with clear emperipolesis (original magnification × 400 S-100-stain)