June 2025

OPHTHALMOLOGY

CASE REPORT: PAINFUL OPHTHALMOPLEGIA

A 31-year-old male presented with seven days of worsening sinus and right eye pain followed by diplopia and right upper eyelid ptosis. An MRI taken in May 2020 demonstrated a 14 x 8 millimeter area of enhancement in the right cavernous sinus. 
Neurosurgery evaluated the patient and empirically started dexamethasone for a presumed inflammatory process, and his eye pain and ptosis started to improve. One week later, he saw Neuro-ophthalmology. His visual acuity was 20/25 on the right and 20/20 on the left with no rAPD present. The right eye showed nearly complete ophthalmoplegia with large-angle exotropia and hypotropia and ptosis, consistent with a palsy of right cranial nerves III, IV and VI.
 
Three weeks later, with continued dexamethasone treatment, his motility deficits and misalignment had nearly completely resolved, and the enhancing mass decreased in size on MRI. 
Workup including LP and serum infectious/inflammatory studies and IgG4 was unremarkable. The mass continued to grow and was resected in July 2021 with some residual tissue remaining in the right cavernous sinus. 
Pathology results were initially nonspecific with non-clonal lymphocytes, plasma cells and CD68+/CD163+ histiocytes. Results also favored a non-neoplastic process; staining for IgG4 was negative.
By March 2022, the lesion had grown, expanding into the orbital apex. The patient’s exam remained normal, save for some dysesthesia and hypoesthesia in V1. The pathology specimens were sent to the NIH for further analysis. Genetic testing using a 500-gene oncology panel revealed a KRAS p.K117N mutation. These results suggested a diagnosis of Rosai–Dorfman disease.
​Cobimetinib was initiated to target MEK (downstream of the mutated, oncogenic KRAS protein). He was treated for one and a half years and remained symptom-free with normal cranial nerve examination. 
​This is an unusual presentation of Rosai–Dorfman disease, which classically presents with painless lymphadenopathy and fever. A minority of cases are extranodal; orbital involvement constitutes a small percentage of such cases.
 
Cavernous sinus involvement is even rarer, and ophthalmoplegia involving cranial nerves III, IV and VI has only been reported once. The thorough workup performed, including genetic testing, was crucial to making the diagnosis and allowing for the targeted treatment of the affected signaling pathway.
Nicholas J. Volpe, MD, Chair of the Department of Ophthalmology, and George W. and Edwina S. Tarry Professor of Ophthalmology at Northwestern Medicine
Joshua Wesalo, MD, PhD, Ophthalmology  Resident at Northwestern Medicine 

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