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Ophthalmology – Behçet’s Disease
Behçet’s disease is a multisystem inflammatory disorder characterized by a systemic vasculitis affecting small blood vessels. It classically presents with a triad of recurrent oral aphthous ulcers, genital ulcers, and uveitis, although skin lesions and systemic involvement are also common. The ocular manifestations are particularly important, as they can range from mild anterior uveitis to severe, sight-threatening retinal vasculitis. The disease tends to follow a relapsing-remitting course and can involve multiple organ systems.
Epidemiologically, Behçet’s disease is most prevalent along the historic “Silk Road,” particularly in countries such as Turkey, Japan, the Middle East, and parts of Asia. It most commonly affects young adults between the ages of 25 and 35, although it can occur at any age. While earlier reports suggested a male predominance, more recent data indicate a more equal distribution between sexes. The disease is rare in North America. Genetic predisposition plays a role, with a strong association with the HLA-B51 allele, while environmental or infectious triggers such as streptococcal organisms and viruses have been proposed but not definitively proven.
The pathophysiology involves an abnormal immune response leading to a nonspecific obliterative vasculitis. Dysfunction of lymphocytes and immune regulation results in inflammation and damage to blood vessels throughout the body. This explains the wide range of systemic and ocular manifestations seen in affected patients.
Diagnosis of Behçet’s disease is clinical, as there is no single confirmatory laboratory test. The most widely used criteria require recurrent oral ulcers (at least three times in one year) along with at least two of the following: recurrent genital ulcers, ocular inflammation, skin lesions, or a positive pathergy test. Oral ulcers are the most common feature, occurring in nearly all patients, and appear as painful, well-defined lesions with a red border. Genital ulcers may be painful or painless and often recur. Skin findings include erythema nodosum, acneiform eruptions, and superficial thrombophlebitis.
Ocular involvement occurs in a majority of patients and is a major cause of morbidity. Patients typically present with eye pain, redness, photophobia, and blurred vision. Anterior segment findings include nongranulomatous anterior uveitis, sometimes with a shifting hypopyon, although hypopyon is less common today due to earlier treatment. Posterior segment involvement is more severe and includes retinal vasculitis affecting both arteries and veins, vitreitis, vascular occlusion, and retinal ischemia. These changes can lead to complications such as neovascularization and vision loss. Neuro-ophthalmic findings, including cranial nerve palsies and optic disc edema, may occur in cases with central nervous system involvement.
Evaluation includes a thorough clinical examination and may be supported by laboratory testing. Although routine labs are often nonspecific, tests such as HLA-B51 typing and the pathergy test can support the diagnosis. Imaging studies, particularly fluorescein angiography, are essential in assessing retinal vascular involvement and monitoring disease progression. In cases with suspected neurologic involvement, MRI and cerebrospinal fluid analysis may be required.
Management depends on disease severity and organ involvement. Mild disease may be managed conservatively, but moderate to severe cases—especially those with ocular, neurologic, or vascular involvement—require aggressive immunosuppressive therapy. Systemic corticosteroids are often used initially for rapid control of inflammation, but long-term use necessitates steroid-sparing agents. These include immunosuppressive drugs such as azathioprine, mycophenolate mofetil, cyclosporine, and tacrolimus, as well as cytotoxic agents like cyclophosphamide. Biologic therapies, particularly tumor necrosis factor (TNF) inhibitors such as infliximab and adalimumab, have become increasingly important in controlling severe disease. A multidisciplinary approach involving ophthalmologists, rheumatologists, and other specialists is essential.
Patients with ocular involvement require urgent referral to a uveitis or retinal specialist due to the high risk of vision loss if treatment is delayed. Surgical interventions, such as cataract extraction, may be performed once inflammation is well controlled, while laser photocoagulation may be used to treat retinal neovascularization.
The prognosis of Behçet’s disease has improved significantly with modern immunosuppressive and biologic therapies, although visual outcomes can still be guarded. Without adequate treatment, a high proportion of patients may develop severe visual impairment or blindness. Systemic prognosis is generally favorable in the absence of major complications such as central nervous system involvement or large-vessel disease. Over time, many patients experience longer periods of remission, and disease activity may stabilize after approximately a decade.
Complications primarily relate to chronic inflammation and vascular damage. Ocular complications include cataract, glaucoma, retinal ischemia, neovascularization, vitreous hemorrhage, retinal detachment, and optic nerve damage, all of which can contribute to permanent vision loss.
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