Ophthalmic Rosai-Dorfman Disease and the Revised Classification of Histiocytoses: A Case Series and Review of the Literature

PURPOSE: To describe a single academic institutional experience with ophthalmic Rosai-Dorfman disease (RDD) and to review the literature incorporating the revised 2016 classification of histiocytoses. METHODS: The authors review all cases of RDD at a single institution over a 10-year period, extracting those with ophthalmic findings. In addition, they provide an exhaustive review of previously published ophthalmic RDD patients and utilize the revised 2016 histiocytosis classification system to categorize both groups. RESULTS: Forty-eight patients with RDD were identified, of whom 12 had ophthalmic findings, with a mix of cutaneous, nodal, and extranodal forms. Twenty-one previously published case series and 105 case reports were analyzed, showing a diverse range of presentation and RDD categories. CONCLUSIONS: Rosai-Dorfman disease is a rare benign disorder characterized by proliferation of histiocytes, often with emperipolesis. While commonly presenting with cervical lymphadenopathy, extranodal involvement, including the orbit and ocular structures, can occur. Initially described as a pseudolymphomatous entity, RDD has recently been reclassified to reflect increased understanding of cellular origins, molecular pathology, and clinical spectrum. In this study, we utilize the new classification system to describe 12 patients with RDD and orbital/ocular involvement identified at a single institution-the largest single institution series of orbital RDD in the United States to date. We also review existing published examples of ophthalmic RDD, regrouping them to reflect the revised categorization. Diagnosis continues to be challenging, and further studies are needed to improve pre-biopsy diagnostic accuracy.