Young man presents with unilateral blurry vision, floaters, mucosal and genital ulcers
Click Here to Manage Email Alerts
A 28-year-old man presented to the New England Eye Center with a 1-week history of blurry vision, floaters and darkening of his inferior visual field in the right eye.
At the time of presentation, the patient denied ocular pain, redness, discharge, flashes, headaches or diplopia. Review of systems was notable for recurrent painful oral ulcers, a 2-year history of a nondescript rash over his lower legs in a relapsing/remitting pattern and a single episode of genital ulcers. His medical history was significant for celiac disease. The patient was born in Taiwan and moved to the United States when he was young. His only medication was duloxetine for a diagnosis of depression. He had no known drug allergies and denied use of alcohol, tobacco or recreational drugs. The patient denied current sexual activity and had no history of sexually transmitted infections.
Examination
Upon examination, visual acuity was 20/25 with correction in the right eye and 20/20 in the left. Pupils were round, brisk and reactive bilaterally without afferent pupillary defects. Extraocular movements were full and painless bilaterally. Confrontation visual fields and color plates were full in each eye with IOPs within normal limits bilaterally.
Anterior slit lamp examination revealed diffuse 1+ conjunctival injection of the right eye with 2+ anterior chamber cells. Anterior examination of the left eye was unremarkable. Dilated fundus exam of the right eye demonstrated 1+ anterior vitreous cells with superotemporal focal round retinitis from approximately 10 to 12 o’clock (Figure 1). Bilaterally, the optic nerves were pink and healthy with a 0.3 cup-to-disc ratio. No other abnormalities were found on dilated examination.
Source: Jonathan Caranfa, MD, PharmD, and Lana Rifkin, MD
What is your diagnosis?
See answer below.
Blurry vision and floaters
In any patient presenting with new-onset panuveitis, it is important to evaluate for infectious and inflammatory etiologies.
Infectious etiologies, such as tuberculosis, syphilis and HIV, and inflammatory conditions, such as sarcoidosis, were all considered. QuantiFERON Gold, fluorescent treponemal antibody absorption, angiotensin-converting enzyme, lysozyme and HIV PCR were all unremarkable. Chest X-ray was normal with no concerns for sarcoidosis.
Fluorescein angiography of the right eye demonstrated perivascular hyperfluorescence (mainly of the venous vasculature) in the late frames consistent with retinal vasculitis without evidence of reduced retinal perfusion (Figure 2). OCT of the macula in both eyes was within normal limits.
The patient was initiated on prednisolone acetate 1% topical suspension four times per day in his right eye, and systemic steroids were scheduled to be initiated pending a negative infectious workup. Upon follow-up examination 5 days later, the patient’s exam was largely unchanged with the exception of resolving retinal hemorrhages superotemporally. Despite resolving hemorrhages, evidence of retinitis persisted superotemporally, and new focal patches of retinitis were noted within the nasal retina. Given the lack of improvement, anterior chamber paracentesis evaluating for spirochetes, herpes simplex virus (HSV), cytomegalovirus (CMV) and varicella zoster virus was performed, which was negative. The patient was initiated on oral prednisone 60 mg per day with continuation of topical steroid therapy as above.
Discussion
The acute onset of panuveitis in an otherwise healthy young man with systemic features consisting of recurrent skin rash and oral and genital ulcers is most consistent with a diagnosis of Behçet’s disease. Specifically, posterior uveitis in the form of retinal vasculitis makes Behçet’s disease even more likely; however, other infectious, inflammatory and neoplastic causes must also be considered.
Infectious etiologies include ocular tuberculosis, syphilis and CMV. HSV ocular disease, specifically necrotizing herpetic retinitis, can mimic Behçet’s disease retinal vasculitis. Inflammatory etiologies of panuveitis with retinal vasculitis include sarcoidosis and granulomatosis with polyangiitis (formerly Wegener’s granulomatosis). Finally, malignant causes such as leukemia, specifically chronic myeloid leukemia, have been described to cause oral ulcers and panuveitis similar in appearance to Behçet’s disease.
Behçet’s disease is a multisystem inflammatory vascular disease characterized by necrotizing obliterate vasculitis commonly presenting with the triad of oral ulcers, genital ulcers and ocular inflammatory manifestations. The etiology of Behçet’s disease is unknown; however, an association with HLA-B51 is established. Despite this genetic predisposition, it is rare to see family clustering of Behçet’s disease even when multiple family members carry the HLA-B51 gene. Moreover, HLA-B51 testing has been found to be positive in 40% to 80% of patients with Behçet’s disease and up to 30% of patients without Behçet’s disease. Given the lack of specificity, HLA-B51 testing is not diagnostically useful and therefore not recommended in the workup of a patient with suspected Behçet’s disease.
Ocular manifestations occur in approximately 70% of patients, with many experiencing floaters and painless vision loss. Additionally, patients may present with redness, tearing, photophobia and blurry vision. In upward of 25% of patients, a nongranulomatous anterior uveitis with a transient hypopyon is seen on slit lamp evaluation. Commonly, uveitis from Behçet’s disease is an obliterative, necrotizing vasculitis that leads to retinal ischemia and ischemic optic neuropathy. Given Behçet’s disease propensity for causing retinal vasculitis (affecting both arteries and veins), it is the posterior segment involvement that can quickly lead to significant vision loss. In advanced disease or after multiple relapsing events, retinal vessels appear sclerotic, threadlike and white along a backdrop of atrophic retina.
The key to preventing permanent visual loss in Behçet’s disease is prompt diagnosis as the aggressive inflammatory nature of this condition can quickly lead to irreversible tissue damage and severe vision loss in 20% of cases. There are currently no pathognomonic tests for diagnosing Behçet’s disease; therefore, diagnosis is made based on clinical findings such as acute onset of anterior, intermediate or posterior uveitis with systemic findings consisting of recurrent oral ulcers, genital ulcers, cutaneous lesions (erythema nodosum, papulopustular lesions, pseudofolliculitis) or a positive pathergy test. Patients experiencing acute manifestations of Behçet’s disease or relapses of the condition should be treated with systemic corticosteroids with or without immunomodulatory therapy (IMT). Owing to the fact that Behçet’s disease carries a lifetime risk for recurrence, patients should be evaluated by a rheumatologist for initiation of maintenance IMT, with agents such as azathioprine, cyclosporine, interferon alpha and monoclonal anti-TNF antibodies recommended as first-line therapy.
Clinical course continued
The patient was followed closely over subsequent weeks with significant improvement in his clinical condition and resolution of anterior/vitreous cells and retinal vasculitis. Oral prednisone was slowly tapered, with the patient self-discontinuing therapy at 30 mg per day. Given the recurrent/relapsing nature of Behçet’s disease, referral to rheumatology for IMT was initiated. The patient will require close follow-up on a quarterly basis for repeat dilated fundus examinations to assess for evidence of disease recurrence.
- References:
- Chawla R, et al. BMJ Case Rep. 2017;doi:10.1136/bcr-2017-222238.
- Desbois AC, et al. Rev Med Interne. 2018;doi:10.1016/j.revmed.2018.02.022.
- Hatemi G, et al. Ann Rheum Dis. 2018;doi:10.1136/annrheumdis-2018-213225.
- International Study Group for Behçet’s Disease. Lancet. 1990;doi:10.1016/0140-6736(90)92643-V.
- Ksiaa I, et al. J Fr Ophtalmol. 2019;doi:10.1016/j.jfo.2019.02.002.
- Mizuki N, et al. Am J Ophthalmol. 1993;doi:10.1016/s0002-9394(14)71396-0.
- Tugal-Tutkun I, et al. Ocul Immunol Inflamm. 2013;doi:10.3109/09273948.2013.795228.
- For more information:
- Jonathan Caranfa, MD, PharmD, and Lana Rifkin, 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.