Chorioretinal Autoimmune Conditions
The following sections detail selected autoimmune diseases that affect the retina and choroid. These conditions are generally treated using standard autoimmune treatment options. Specific treatment considerations are mentioned when applicable.
Behçet disease Behçet disease is a complex systemic disorder characterized by recurrent attacks of inflammation and vascular occlusion involving multiple organ systems. There are no specific tests to confirm a diagnosis of Behçet disease, but it is associated with the major histocompatibility complex HLA-B5 allele, and more specifically with HLA-B51 (the predominant split antigen). The diagnosis is based on clinical criteria (Table 11-2). Recurrent oral ulceration affects nearly all patients, and cutaneous lesions such as erythema nodosum are common. Central nervous system involvement may develop in more than 50% of patients and should be suspected in any patient with neurologic signs. Other systemic manifestations include arthritis, epididymitis, and intestinal ulcers. Behçet disease tends to affect men more than women and is particularly common in Japan, Southeast Asia, the Middle East, and the Mediterranean region. The etiology is unknown.
Uveitis is common in patients with this disorder; it may be anterior, posterior, or diffuse (panuveitis). Posterior segment involvement may include vitritis, an occlusive retinal vasculitis, intraretinal hemorrhages, macular edema, focal areas of retinal necrosis, and ischemic optic neuropathy. Recurring episodes of retinal vasculitis may lead to severe ischemia and retinal neovascularization, which should be treated with panretinal photocoagulation. Despite treatment, the visual prognosis is often poor because of progressive retinal ischemia from recurring episodes of occlusive vasculitis. Use of biologic agents, such as inhibitors of tumor necrosis factor alpha, as well as interferon, has shown promise. Treatment with azathioprine and cyclosporine has been shown to reduce ocular manifestations in well-designed prospective trials.
Masuda K, Nakajima A, Urayama A, Nakae K, Kogure M, Inaba G. Double-masked trial of cyclosporin versus colchicine and long-term open study of cyclosporin in Behçet’s disease. Lancet. 1989;1(8647):1093–1096.
Tugal-Tutkun I. Imaging in the diagnosis and management of Behçet disease. Int Ophthalmol Clin. 2012;52(4):183–190.
Yazici H, Pazarli H, Barnes CG, et al: A controlled trial of azathioprine in Behçet’s syndrome. N Engl J Med. 1990;322(5):281–285.
Systemic lupus erythematosus (SLE) is a systemic autoimmune disorder that most commonly affects women of childbearing age. Black and Hispanic women are at higher risk than are white women. As a multisystem disease, SLE can involve almost every ocular and periocular structure. Approximately 3%–10% of patients with SLE have retinal findings ranging from asymptomatic cotton-wool spots and intraretinal hemorrhages to macular infarction with severe central vision loss (Fig 11-9). Lupus choroidopathy is less common and presents as multifocal serous retinal detachments. The retinal and choroidal pathology is vascular and thought to be autoimmune in nature.
Table 11-2 International Clinical Criteria for Behçet Disease
The presence of retinal vascular occlusion, including cotton-wool spots, is indicative of active systemic inflammation and should prompt treatment. Sarcoidosis can cause retinal vasculitis (Fig 11-10) and should be evaluated as a possible alternative.
The Standardization of Uveitis Nomenclature (SUN) Working Group defined intermediate uveitis as a subset of posterior uveitis where the vitreous is the major site of inflammation. Eighty percent of intermediate uveitis cases are idiopathic. The most commonly identified causes in North America and Europe are sarcoidosis and multiple sclerosis. The diagnostic term pars planitis should be used only for the subset of intermediate uveitis where a “snowbank” or “snowball” formation occurs in the absence of an associated systemic disease or infection.
Intermediate uveitis is typically bilateral and can occur in children, adolescents, or adults. Common symptoms include floaters and decreased vision. Characteristic ocular manifestations include vitreous inflammation, inflammatory debris overlying the pars plana (snowbanks), and aggregates of vitreous cells (snowballs). Both snowbanks and snowballs are most often observed inferiorly. Peripheral neovascularization may form along the inferior snowbank in 5%–10% of cases and can lead to vitreous hemorrhage with tractional or rhegmatogenous retinal detachment. When active, segmental phlebitis, optic nerve head leakage, and CME are common. Epiretinal membrane formation also occurs.
Figure 11-9 Vasculitis secondary to systemic lupus erythematosus. A, Color fundus photograph shows vitreous hemorrhage secondary to neovascularization. B, Late-phase fluorescein angiography image reveals choroidal and retinal nonperfusion, perivascular staining, and leakage due to neovascularization.
(Courtesy of Matthew A. Thomas, MD.)
Figure 11-10 Sarcoidosis. Color fundus photograph shows retinal vascular sheathing.
(Courtesy of Ramin Schadlu, MD.)
Vitreous cells or segmental phlebitis in the absence of decreased vision can be observed without treatment. Active CME is best treated with corticosteroids.
Vidovic-Valentincic N, Kraut A, Hawlina M, Stunf S, Rothova A. Intermediate uveitis: longterm course and visual outcome. Br J Ophthalmol. 2009;93(4):477–480.
Vogt-Koyanagi-Harada (VKH) disease (or syndrome) is a systemic autoimmune disorder in which T lymphocytes are directed against melanocytes in the eye, auditory system, meninges, and skin. VKH disease most commonly affects people of Asian, American Indian, Asian Indian, Mediterranean, and Middle Eastern descent. Ocular findings are typically bilateral and include vitreous inflammation associated with serous retinal detachment. Optic nerve head hyperemia and edema are common. Fluorescein angiography studies can be particularly helpful in monitoring disease activity and often show multiple RPE leaks in the areas of detachment, a finding referred to as the “starry night” or “Milky Way” sign. A “sunset glow” fundus appearance can be seen due to choroidal depigmentation as the uveitis subsides (Fig 11-11).
A diagnosis of VKH disease should only be made in patients who have not had a penetrating ocular injury or ocular surgery in either eye, to help distinguish this disease from sympathetic ophthalmia. VKH disease is termed probable when characteristic ocular inflammation occurs in the absence of skin or neurologic findings; it is termed incomplete if either skin or neurologic findings, but not both, are present; and it is termed complete when both skin and neurologic findings develop.
Figure 11-11 Vogt-Koyanagi-Harada (VKH) disease. A, Color fundus photograph montage of the right eye taken during an acute uveitic phase in a patient with a presenting visual acuity of 20/400 in both eyes demonstrate vitritis, optic nerve head swelling, diffuse serous detachments with inferior dependency, and dilated and tortuous vasculature. B, Montage fundus photographs of the right eye taken 2 years later during the chronic (convalescent) phase demonstrate diffuse chorioretinal scarring and the classic “sunset glow” fundus due to loss of choroidal pigment. Visual acuity improved to 20/20 in both eyes.
(Courtesy of Stephen J. Kim, MD.)
The clinical course of VKH disease can be divided into 3 phases:
prodromal phase: characterized by a flulike illness with symptoms that can include headache, meningismus, tinnitus, and dysacusis
acute uveitic phase: closely follows the prodromal phase; characterized by pain, photophobia, and vision loss accompanied by the onset of bilateral panuveitis with serous retinal detachments
chronic (convalescent) phase: the uveitis subsides, but depigmentation of the skin and uvea can occur; ocular depigmentation may develop at the limbus (“Sugiura” sign), the trabecular meshwork (“Ohno” sign), or within the choroid (“sunset glow” sign)
VKH disease tends to respond to standard treatments. A delay in diagnosis and treatment is associated with an increased risk of depigmentation of the skin and eye and with an increased rate of ocular complications, including cataract, glaucoma, and subretinal fibrosis.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.