• Neuro-Ophthalmology/Orbit

    Tumefactive multiple sclerosis (MS) often presents a diagnostic challenge because it can mimic neoplastic, infectious or ischemic disease. This case series describes the retinal findings in 2 patients with tumefactive MS.

    Study design

    The authors performed eye examinations on 2 patients with tumefactive MS. The first was a 37-year-old man who initially presented with a 5-day history of progressive bilateral vision loss and pain with eye movement, and was diagnosed 2 weeks later with tumefactive MS. The second patient was a 40-year-old woman who initially presented to the emergency department with a 5-day history of progressive vision loss in her left eye.

    Outcomes

    Examination of both patients revealed retinal findings of venous sheathing and bone spicule pigmentation.

    After diagnosis, both patients were treated with 5 cycles of plasma exchange. The male patient’s vision improved from light perception in both eyes to count fingers in the right eye and hand motions in the left eye, and he was discharged after a 16-day hospitalization with a prednisone taper. At the 1-year follow-up exam, the male patient had visual acuities of 20/400 in both eyes, and OCT revealed retinal nerve fiber layer thinning. Venous sheathing in the inferotemporal arcade of the right eye remained stable.

    The female patient was discharged from the hospital on rituximab and, 5 months after initial presentation, her visual acuity had improved to 20/30 in the left eye. She continues to experience symptoms of MS including motor dysfunction, scanning speech and incontinence.

    Limitations

    Case series are inherently limited by the availability of patients with rare conditions.

    Clinical significance

    The authors note that retinal sheathing and uveitis are not uncommon in patients with MS. The perivascular lymphocytic infiltration and accompanying edema, which characterizes demyelinating lesions of MS, is likely the mechanism responsible for retinal periphlebitis and sheathing of retinal vessels.

    However, retinal bone spicule pigmentation is rare, especially in the tumefactive variety of MS, which is itself a relatively uncommon diagnosis. The authors propose that autoimmune periphlebitis, or ischemia secondary to venous sheathing, could have stimulated the retinal pigment epithelium cells to migrate and surround nascent aberrant vessels to re-establish the blood–retina barrier, leading to subsequent development of bone spicule pigmentation.