Man presents with sudden unilateral vision loss
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A 71-year-old man presented to the emergency department at Tufts Medical Center after experiencing sudden painless loss of vision in his right eye for the past 48 hours.
For approximately 2 weeks before presentation, the patient had been noticing blurry vision and a sharp, intensely painful right-sided temple headache. The patient was examined by an optometrist several days before presentation, at which time he was documented to have intact visual acuity with normal-appearing anterior and posterior examinations.
At the time of presentation, the patient denied ocular pain, redness, discharge, flashes or diplopia. Systemic review of systems was unremarkable and negative for fever, weight loss/anorexia, myalgias, scalp tenderness or jaw claudication. His medical history was significant for osteoporosis, gastroesophageal reflux disease and recent non-ocular herpes zoster, for which he was taking gabapentin and valacyclovir. His ocular and family histories were noncontributory. The patient was a retired sales representative, currently married and living at home with his wife. He had no known drug allergies and denied use of alcohol, tobacco or recreational drugs.
Examination
Upon examination, visual acuity was hand motion in the right eye and 20/30 with correction in the left. The right pupil was mid-dilated with a grade 4 relative afferent pupillary defect, and the left pupil was round, brisk and reactive without relative afferent pupillary defect. Extraocular movements were full and painless bilaterally. Visual fields to confrontation and with color plates were full in the left eye, but the patient was unable to complete these examinations in the right eye given the significant visual impairment. IOP was within normal limits bilaterally.
Anterior slit lamp examination was unremarkable bilaterally. Posterior pole exam of both eyes demonstrated pink and healthy-appearing optic nerves with a 0.4 cup-to-disc ratio. No macular or peripheral retinal abnormalities were found on the dilated exam.
In-office imaging was performed to better elucidate the etiology. OCT of the retinal nerve fiber layer showed normal optic nerve thickness (Figure 1). Ganglion cell count demonstrated full thickness bilaterally (Figure 2). Macular OCT demonstrated normal contour without intraretinal or subretinal fluid bilaterally. Fluorescein angiography showed normal retinal and choroidal filling without abnormalities of the retinal vasculature or the optic disc.
Source: Jonathan Caranfa, MD, PharmD, and Yosbelkys Martin Paez, MD
MRI of the brain and orbits T1 fat-saturated postcontrast sequencing revealed asymmetric enhancement and inflammatory changes along the right orbital apex with involvement of the right optic nerve (Figure 3).
What is your diagnosis?
See answer below.
Unilateral vision loss
The differential diagnosis in a patient experiencing progressive vision loss, unilateral headache and MRI findings of an orbital apex enhancement must include infectious, inflammatory/autoimmune and neoplastic processes. In the absence of any particular etiology, a diagnosis of nonspecific orbital inflammation (NSOI), also known as idiopathic orbital inflammation, orbital inflammatory syndrome or orbital pseudotumor, can be established.
Infectious etiologies to consider include syphilis, tuberculosis and invasive fungal disease. Herpes simplex virus (HSV) and varicella-zoster virus (VZV) can cause inflammation of the optic nerve sheath seen as a concomitant optic perineuritis. Inflammatory etiologies of the orbital apex include sarcoidosis, granulomatosis with polyangiitis (formerly Wegener granulomatosis), rheumatoid arthritis, systemic lupus erythematosus and IgG4-related disease. With optic nerve involvement, such as in this case, myelin oligodendrocyte glycoprotein (MOG) optic neuritis should be part of the differential diagnosis. MOG, if left untreated, can lead to progressive and irreversible vision loss. In any older patient with significant vision loss and headache, one must also consider giant cell arteritis. Finally, tumors, both benign and malignant, such as meningioma, leukemia, lymphoma, multiple myeloma and metastasis, should be ruled out before making the diagnosis of exclusion, NSOI.
Workup and management
Complete blood count, antinuclear antibodies with reflex for anti-neutrophil cytoplasmic antibody, rheumatoid factor, QuantiFERON Gold, fluorescent treponemal antibody absorption, angiotensin-converting enzyme, lysozyme, HSV/VZV polymerase chain reaction and IgG4 assay were all tested, with results within normal limits or negative. Additionally, serum antibodies against MOG were negative. To further investigate an underlying systemic malignancy, the patient underwent CT of the chest, abdomen and pelvis, which did not reveal any evidence of a malignant process. Finally, given the optic nerve enhancement seen on MRI, the patient underwent lumbar puncture with gram stain, culture and infectious/cytological/flow cytometry assays, which were all normal.
The patient was initiated on systemic corticosteroids in the form of IV methylprednisolone 250 mg every 6 hours for 3 days with transition to oral prednisone 60 mg per day given the clinical concern for giant cell arteritis. However, the patient underwent temporal artery biopsy, which did not reveal definitive evidence of active inflammation consistent with giant cell arteritis. Given the negative workup, a diagnosis of NSOI was made.
Discussion
NSOI is a benign, noninfectious inflammatory process, characterized by a polymorphous lymphoid infiltrate, which can involve a number of structures within the orbit including the extraocular muscles, lacrimal gland, sclera, uvea, orbital fat, optic nerve sheath, superior orbital fissure and cavernous sinus. NSOI is the third most common orbital disease, occurring in 8% to 10% of cases, behind only thyroid eye disease and lymphoma. The etiology of NSOI remains largely unknown, but both infectious and immune-mediated etiologies have been postulated.
Ocular symptoms in NSOI typically present unilaterally, but bilateral presentation is not uncommon, with pain, periorbital edema, proptosis, diplopia, ptosis, ocular redness, chemosis and decreased vision observed. In any patient with suspected NSOI, a full ophthalmological examination should be conducted and can be approached in a systematic way, looking for signs and symptoms of orbital inflammation findings and including examination of the lid (retraction, lid lag, lagophthalmos), orbit (proptosis), extraocular movement (restriction), globe (injection, chemosis) and optic nerve (visual acuity, color saturation, pupils). NSOI is a diagnosis of exclusion, as clinically and radiographically it can mimic other inflammatory, infectious and/or malignant processes. Therefore, all patients with suspected NSOI should undergo a comprehensive systemic workup for other etiologies. Additionally, in patients with recurrences or who have stopped responding to treatment, tissue sampling via orbital biopsy should be performed for a definitive diagnosis.
The mainstay of treatment for NSOI has historically been systemic corticosteroids at high doses of approximately 1 mg/kg per day to 1.5 mg/kg per day with a slow taper over several months to prevent relapse of disease. Other immunologic agents have also shown efficacy in the treatment of NSOI, including calcineurin inhibitors (tacrolimus), cytotoxic agents (methotrexate, azathioprine, cyclophosphamide) and newer biologic therapies directed at specific immune mediators, specifically anti-tumor necrosis factor alpha (infliximab, adalimumab), interleukin-6 (tocilizumab) and CD20 (rituximab). In cases of relapsing disease, chronic immunosuppression with the aforementioned agents is required. In mild cases of disease, observation has been shown to be effective, as have oral NSAID medications used for up to 3 weeks. In cases of refractory disease, radiotherapy, plasmapheresis, intravenous immunoglobulin and surgery have all shown to be beneficial.
Outcomes in NSOI are variable given the wide range of clinical presentations and extent of orbital involvement. Several authors have demonstrated that across all treatment modalities, the majority of patients (approximately 75%) experience either full or partial resolution of symptoms with appropriate treatment.
Clinical course continued
The patient was followed on a daily basis with significant improvement in visual acuity, measuring 20/40 from initial hand motion in the right eye 1 week after initiating corticosteroid therapy. A relative afferent pupillary defect persisted in the right eye with some superior constriction noted on confrontational visual field testing and temporal pallor of the optic nerve. The patient demonstrated full recovery of color saturations of the right eye, and efferent visual pathways remained intact. The patient was continued on oral prednisone 60 mg per day for 1 month with plans to taper by 5 mg every 2 weeks. The patient will require close follow-up on a monthly basis for complete ophthalmological examination to assess for evidence of disease recurrence.
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- For more information:
- Jonathan Caranfa, MD, PharmD, and Yosbelkys Martin Paez, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 800 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.
- Edited by Allison V. Coombs, DO, MS, and Nisha S. Dhawlikar, MD, MPH. They can be reached at New England Eye Center, Tufts University School of Medicine, 800 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.