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Ocular Manifestations of Autoimmune Diseases: How to Understand and Identify
Optometrists have a key role to play when it comes to the overall health of their patients.
By Melissa Chen, OD, Theresa Jay, OD, Steve Njeru, OD, and Eric Spotts, OD
Jointly provided by the Postgraduate Institute for Medicine (PIM) and the Review Education Group
Release Date: May 15, 2024
Expiration Date: May 15, 2027
Estimated Time to Complete Activity: two hours
Target Audience: This activity is intended for optometrists who want to learn about the impact this system has on practice.
Educational Objectives: After completing this activity, participants should be better able to:
Recognize the ocular manifestations of various autoimmune diseases.
Determine when a referral to primary care or a specialist is necessary.
Effectively treat patients with the ocular manifestations of autoimmune conditions.
Comanage these patients with a specialist as needed.
Disclosure of Conflicts of Interest: PIM requires faculty, planners and others in control of educational content to disclose all their financial relationships with ineligible companies. All identified conflicts of interest are thoroughly vetted and mitigated according to PIM policy. PIM is committed to providing its learners with high-quality, accredited CE activities and related materials that promote improvements or quality in health care and not a specific proprietary business interest of an ineligible company.
Those involved reported the following relevant financial relationships with ineligible entities related to the educational content of this CE activity: Faculty - Drs. Chen, Jay, Njeru and Spotts have nothing to disclose. Planners and Editorial Staff - PIM has nothing to disclose. The Review Education Group has nothing to disclose.
Accreditation Statement: In support of improving patient care, this activity has been planned and implemented by PIM and the Review Education Group. PIM is jointly accredited by the Accreditation Council for Continuing Medical Education, the Accreditation Council for Pharmacy Education and the American Nurses Credentialing Center to provide CE for the healthcare team. PIM is accredited by COPE to provide CE to optometrists.
Credit Statement: This course is COPE-approved for two hours of CE credit. Activity #128431 and course ID 91421-SD. Check with your local state licensing board to see if this counts toward your CE requirement for relicensure.
Disclosure of Unlabeled Use: This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications. The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Refer to the official prescribing information for each product for discussion of approved indications, contraindications and warnings.
Disclaimer: Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s condition(s) and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information and comparison with recommendations of other authorities.
A number of autoimmune diseases may initially present with only ocular manifestations prior to any systemic involvement. Common ocular manifestations of autoimmune diseases include keratitis sicca, peripheral ulcerative keratitis, episcleritis, scleritis, optic nerve edema, vision loss, diplopia or eyelid ptosis. Maintaining a high index of suspicion allows optometrists to further investigate the etiology of ocular findings and coordinate prompt management and treatment for autoimmune conditions in order to reduce systemic or ocular impairment. Here, we will discuss various autoimmune diseases and how they may present in the eye.
Graves’ Disease (GD)
This autoimmune disorder involves the thyroid gland, characterized by the presence of circulating autoantibodies that bind to and stimulate the thyroid-stimulating hormone receptor (TSHR), resulting in hyperthyroidism and inflammation.1 Although most often associated with hyperthyroidism, Graves’ may present in euthyroid or hypothyroid conditions. Thyroid eye disease (TED), also known as Graves’ ophthalmopathy, is a disease that primarily targets retrobulbar tissue leading to ocular complications.1 TED is characterized by autoantibodies targeting and activating orbital fibroblasts causing enlargement of extraocular muscles and connective tissues.2
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A computed tomography head scan of a patient with known thyroid eye disease, who was symptomatic for dryness and irritation. There is proptosis of both eyes with the right eye displaying more protrusion. The patient’s exophthalmometry reading was 31.5mm OD and 28mm OS. Click image to enlarge. |
Graves’ disease and TED can occur at any age but most commonly occur within the third to fifth decade of life, with women at a higher risk than men by sixfold.3-6 Despite a higher incidence in females, men who are diagnosed are four-times more likely to have severe TED complications.3 Other risks include genetic, environmental and immune factors. Smoking is the most consistently linked environmental factor, with an increase in risk by seven to eight times.3
While TED pathophysiology is not well established, the most accepted mechanism involves robust activation of orbital fibroblasts.4 These orbital fibroblasts play a critical role in the activation of autoantibodies to TSHR and insulin-like growth factor-1 (IGF-1R).2,7 The orbital infiltration cascade then leads to development of extracellular matrices and fibroblast proliferation, causing water retention, edema and connective tissue remodeling.3,7 This results in extraocular muscle enlargement and orbital fat expansion.
Ophthalmic manifestations vary by case but may include periorbital edema and erythema, eyelid retraction, proptosis, restrictive strabismus, chemosis, increased intraocular pressure, exposure keratopathy and, rarely, reduced vision from corneal ulceration or compressive optic neuropathy.8-9 Management for mild orbitopathy may include ocular surface lubrication and prismatic correction of binocular diplopia. Progression to moderate or severe disease stages may require treatment with corticosteroids, teprotumumab-trbw (Tepezza, Horizon Therapeutics), orbital irradiation or orbital decompression.10-12 Early detection and treatment along with comanagement with endocrinology and ophthalmology are key to preventing long-term complications and improved patient quality of life.
Rheumatoid Arthritis (RA)
This chronic, inflammatory autoimmune condition primarily involves the synovial joints.13 Its prevalence is much higher in regions with people of European descent and the worldwide prevalence is an estimated 0.51%.13 The yearly rate for people developing RA in the US and other northern European nations is about 40 per 100,000 persons and often affects women more than men.1 The risk for developing RA increases with age, as those who are between the age of 65 to 80 years old are often most affected.
RA will start out in the small peripheral joints symmetrically and then eventually affect the proximal joints if left untreated. The risk for developing this condition has been connected to HLA-DRB1, which contains a stretch of amino acids known as the shared epitope.13 This genetic competent combined with environmental factors, such as cigarette smoking, has shown to increase the risk for developing RA as it causes a repeated activation of the innate immunity.13
The classification criteria to be diagnosed with RA includes number and size of involved joints, serological testing for rheumatoid factor or anti-citrullinated peptide/protein antibody, elevated erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP) and a symptom duration of at least six weeks.13
The eye is sensitive, just like other tissues in the body, to widespread systemic inflammation. The most common ocular complications from RA include keratitis sicca, peripheral ulcerative keratitis (PUK), episcleritis and scleritis.14 Less common ocular complications may include uveitis and retinal vasculitis.
Keratitis sicca is by far the most common complication as 10% to 35% of patients with RA will experience dry eye secondary to B and T cells attacking the lacrimal gland, which in turn causes a decrease in tear production.14 Episcleritis and scleritis differ both in the level of inflammation and patient symptoms and may occur in up to 10% of patients with RA.14 It is especially important to be aware of scleritis as it is much more painful than episcleritis and affects both the superficial and deep episcleral vessels.
RA accounts for 34% of PUK cases.14 Patients will present with pain, blurred vision and/or photophobia. PUK is a rare type of corneal melt secondary to immune complexes that attack the vascular arcades in the peripheral cornea. When examining cases of this condition, optometrists should monitor for stromal thinning, neovascularization of the cornea, juxtalimbal ulcers and corneal perforation.
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A 65-year-old African American male presented with a red eye OS that started one month ago and reported eye pain, a foreign body sensation and light sensitivity. He was diagnosed with diffuse non-necrotizing anterior scleritis and was treated with oral NSAIDs. He was also referred to rheumatology due to a positive ANA and elevated ANCA testing. Click image to enlarge. |
Systemic Lupus Erythematosus (SLE)
This systemic inflammatory disease affects multiple tissues of the body including the eye. Its prevalence has been reported to be 20 to 150 per 100,000 persons, and women are nine times more likely to develop SLE than men.15 The pathophysiology of SLE is complex, and it is believed that those who are more genetically susceptible will have an immune response that leads to the creation of self-antigens from cell damage due to factors like infections or smoking.15 These self-antigens are presented to T cells, which accelerates the production of self-antibodies by B cells and ultimately leads to chronic self-induced inflammation and organ damage.
Patients must be positive for at least four out of eleven defined criteria by the American College of Rheumatology to be officially diagnosed with SLE.15 This includes malar rash, discoid rash, skin photosensitivity, oral ulcers, nonerosive arthritis, serositis, renal dysfunction, neurological derangements like seizures, hematologic disorder like anemia, immunologic disorder like anti-DNA antibody and presence of antinuclear antibodies (ANA).15 Meeting at least four criteria has a sensitivity of 85% and specificity of 95% for SLE.16
While the criteria do not mention any ocular findings, an estimated 33% of patients with SLE will experience ocular symptoms.16 These symptoms will differ in severity and can even cause permanent visual impairment. Keratoconjunctivitis sicca is one of the most common findings. Approximately 25% of SLE patients will be affected, and proinflammatory markers can be found within the tear film.16 Periorbital edema is a fairly uncommon presentation in those with SLE, but it has an overall incidence of 4.8% and is more common in those of African descent.17 These patients will present with swelling that has overlying eczema-like changes and can be commonly mistaken as chronic blepharitis. In cases of scleritis associated with SLE, anterior scleritis is a more common presentation than posterior scleritis. It is considered a sight-threatening condition since nodular inflammation can lead to tissue necrosis. Patients with SLE can also present with uveitis, which occurs in roughly 0.1% to 4.8% of patients. It is usually mild in presentation and typically non-granulomatous.16
Lupus retinopathy can develop in an estimated 29% of patients who have active SLE vs. 3% of patients who have well-controlled SLE.17 These retinal changes are due to deposition of immune complexes in the vessel walls, which can lead to microangiopathy, vaso-occlusions and vasculitis. The most common findings may be microangiopathy. This has a similar appearance to diabetic or hypertensive retinopathy with intraretinal hemorrhages, exudates and/or cotton wools spots. Vaso-occlusion and vasculitis are rare clinical appearances but have a worse visual prognosis. This may result in widespread capillary nonperfusion, neovascularization and/or vein/artery occlusions.
Lupus choroidopathy with an exudative retinal detachment is a rare complication of SLE and typically is seen in patients who have highly active SLE.17 It is important to monitor these patients for glaucoma, as choroidal effusion may occur and cause angle closure due to the anterior shift of the lens.
Neuro-ophthalmic complications have been reported in roughly 3.6% of adults with SLE.15 Abnormalities with eye movements are the most common, as they have been reported in up to 29% of patients with third and sixth nerve palsies being the most common presentation.15,17 Notably, optic nerve complications are rare with only 1% of patients being affected by conditions such as optic neuritis, which can have a very poor prognosis as most patients present with 20/200 or worse vision when associated with SLE.16
Sjögren’s Syndrome
Primary presentation of this chronic systemic autoimmune disorder commonly involves sicca symptoms (i.e., dryness involving the eyes and mouth secondary to inflammation and resultant pathology of the lacrimal and salivary glands).18 Sjögren’s syndrome is classified as either primary (condition occurs by itself) or secondary (accompanied by other systemic autoimmune conditions such as RA and SLE).19
Sjögren’s syndrome has a 9:1 ratio predilection for women.20,21 This condition can affect people of any age, although symptoms usually appear in the fourth to fifth decade of life.22 The exact pathophysiology is unknown; however, the current hypothesized mechanism includes the destruction of exocrine gland epithelium due to B and T cell autoantigen responses.23 Antibodies being produced may target the epithelium of salivary ducts and lacrimal glands or against nucleus/cellular antigens such as anti-Ro/SS-A, anti-La/SS-B, rheumatoid factor (RF) and ANA.19 This ultimately results in diminished tear production by the lacrimal glands and diminished saliva production by the salivary glands.
In-office testing may include Schirmer testing, fluorescein staining, rose bengal staining, lissamine green staining, phenol red thread test and tear osmolarity to determine aqueous deficiency. Serologic testing may also be performed including ANA, RF or Sjögren’s syndrome specific antibodies (i.e., anti-Ro [SS-A], anti-La [SS-B]).19,23
A significant number of patients with this condition will have normal serology and are therefore not definitive. While several studies have aimed to identify biomarkers and molecules to diagnose the condition, biopsy of the minor salivary glands remains the gold standard for Sjögren’s syndrome confirmation.23-25 However, a biopsy is not mandatory in all cases if the clinical and laboratory findings are suggestive of the syndrome.
Management of Sjögren’s syndrome includes both local and systemic approaches. Locally targeted ocular treatments may include artificial tears/ointments, punctal occlusion, lateral tarsorrhaphy, bandage contact lenses, prophylactic antibiotic drops, amniotic membranes, oral pilocarpine, immunomodulators, cyclosporine A, filament mechanical removal and autologous serum eye drops.26 Establishing early diagnosis and treatment can help prevent severe complications, vision loss and improve patient quality of life.
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| A 49-year-old Caucasian male who presented with a painful red eye. He was diagnosed and treated for PUK, as his symptoms progressed after initially being diagnosed with a corneal abrasion. He had no prior autoimmune conditions but was diagnosed with RF due to elevated RF, CRP, CCP, ANA and ESR. Click image to enlarge. |
Myasthenia Gravis
This autoimmune condition disrupts the normal ability for acetylcholine to bind to acetylcholine receptors in the postsynaptic membrane at the neuromuscular junction. The presence of antibodies bound to acetylcholine receptors leads to weakness of skeletal muscles.27 Ocular myasthenia gravis (OMG) is characterized by ocular symptoms only. The disease may manifest initially with localized ocular symptoms such as ptosis, diplopia and orbicularis weakness. Generalized myasthenia gravis (GMG) symptoms include dysphagia, dyspnea, dysphonia, dysarthria and weakness of extremities. The overall incidence of OMG is 1.13 per 100,000 per year, while the range of MG is 0.17 to 7 per 100,000 per year.28 It is imperative for eyecare professionals to recognize signs that may lead to the challenging diagnosis of MG.
The presence of antibodies exerts its pathogenic effect at the neuromuscular junction by impeding on normal acetylcholine binding to its respective receptor. It can do so through various mechanisms such as internalizing or reducing acetylcholine receptors, increasing the synaptic distance or reduction of postsynaptic junctional folds. Similarly, presence of low-density lipoprotein receptor-related protein 4 (LRP4) and muscle-specific kinase (MuSK) antibodies reduces the receptor availability for binding. A thymoma is a paraneoplastic source of antibody production, which can be found in 10% of patients with MG.27
Ahead of laboratory testing, in-office testing, not limited to ice test, sleep test or Cogan’s lid twitch, may aid in clinical suspicion. The ice test is performed by placing an ice pack over the patients’ closed eyelids for two minutes. A positive test is denoted as unequivocal improvement of palpebral fissure. The sleep test is comparable to the ice test. A positive sleep test is based on recovery of eyelid posture or diplopia with 30 minutes of rest. Cogan’s lid twitch can be observed as a quick upward overshoot of eyelid on return to primary gaze, following rest in downgaze for 15 seconds. Acetylcholine receptor antibodies in MG are detected in approximately 85% of those with GMG. The remainder of patients may test positive for either MuSK, LRP4 or remain seronegative. Those who remain seronegative should be retested or referred to neurology for trial of treatment.
Optometrists frequently encounter complaints of diplopia or lid droop. However, the hallmark of OMG is variable ptosis and/or diplopia, which exhibits fatigability with sustained muscle usage. Approximately 50% of all MG patients present initially with ocular symptoms.29 Over time, those who present with ocular symptoms have the potential to convert to generalized disease. Only about 15% of patients with MG have symptoms confined to ocular muscles.27 About 90% of patients who continue to have symptoms restricted to ocular muscles over the course of two years will continue as OMG and not convert to generalized disease.27
Multiple Sclerosis (MS)
This neurodegenerative disease leads to debilitating symptoms due to demyelination and progressive axonal degeneration of the central nervous system. MS is considered an autoimmune condition due to the activation of the inflammatory cascade, caused by T cells that identify myelin as foreign, leading to the formation of inflammatory lesions and sclerosed plaques.30
An estimated 400,000 people in the US are affected by MS, with a higher rate of prevalence among those who live in higher altitudes.30 The average onset age is typically young at around 20 to 50 years old and women are three times more likely than men to develop MS.30 At this time, the condition’s etiology is not very well known due to multiple contributing factors such as genetics, stress, diet, viral infections like Epstein-Barr virus, geographical location, ultraviolet light exposure and smoking.
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A 40-year-old Caucasian male reported a lightning streak in his left eye that started two days ago with worsening blurred vision, loss of the upper portion of his vision and a red eye. The photo on the left shows vasculitis with disc edema, macular edema, vessel sheathing and hemorrhaging. The photo on the right shows progression of his retinal vasculitis that involved a new complication of panuveitis after four days. Click image to enlarge. |
Optic neuritis is a common initial manifestation of MS, which occurs in up to 20% of patients who have no known diagnosis of the condition.30 The overall risk of developing MS within 10 years following optic neuritis is an estimated 38%.30 Roughly 75% of patients who have a diagnosis of MS may experience at least one episode of optic neuritis.30
Patients with optic neuritis will present with monocular vision loss that can occur over hours to days and reach peak vision loss within two weeks of onset and then spontaneously improve or resolve within the first month. Papillitis or optic nerve swelling has been reported to occur in up to 33% of patients. The severity of vision impairment can vary with 35% being 20/40 or better and 36% being 20/200 or worse as described in the Optic Neuritis Treatment Trial (ONTT).30,31
Additionally, patients can experience periorbital or ocular pain either before or during the initial vision loss, which commonly presents as being worse during eye movements. This was reported in up to 92% of cases during the ONTT.30 This pain can last for several days but is not correlated with the severity of vision loss. Visual field defects can also vary in presentation as diffuse loss, central scotomas and/or altitudinal defects. Color vision and contrast sensitivity changes can also be observed as patients will often complain about dullness to colors or dimmed vision, which is often tested with the red cap test to observe desaturation. The changes in color vision can occur in up to 88% of patients, whereas contrast sensitivity changes can occur in up to 51% of patients.30
MS may also lead to ocular motor deficits that can be associated with acute exacerbations. Cranial nerve palsies caused by MS are typically isolated and commonly affect the abducens nerve rather than the oculomotor or trochlear nerve.30 Impairment of the abducens nerve will lead to difficulties with eye movements like pursuits and saccades which can affect daily activities, such as reading or driving.
Another complication to be aware of is internuclear ophthalmoplegia (INO), a hallmark neurological finding for MS that is present in 17% to 41% of patients.30 An INO is an abnormal horizontal deficit with adduction impairment of the ipsilateral eye and a horizontal abducting nystagmus of the contralateral eye. This impairment involves a lesion of the medial longitudinal fasciculus. Lesions that cause bilateral INO carry an increased risk for MS. Patients with INO will complain of diplopia, nystagmus and loss of depth perception.
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A 45-year-old male with known MS presented to the eye clinic for his yearly exam with no new symptoms, but his exam showed new ganglion cell loss OS, as seen in the two photos. Click image to enlarge. |
Scleroderma
Also known as systemic sclerosis, this is a severe connective tissue disorder that involves the skin, musculoskeletal, gastrointestinal, pulmonary and renal systems.32-34 The pathophysiology of scleroderma is not entirely understood but it is hypothesized that immune activation leads to vasculopathy and excess fibrosis due to an overproduction and accumulation of collagen and other extracellular matrix proteins.
It is a rare condition with an estimated incidence of 19.3 new cases per million persons per year.33 It typically affects those between 30 to 50 years old and women are three times more likely to develop scleroderma than their male counterparts.33 Patients are diagnosed with scleroderma when they meet the major criteria of thickening of the skin that affects the arms, face and/or neck, as well as minor criteria such as digital pitting scars, sclerosis of the fingers and toes or pulmonary fibrosis.33
Ocular manifestations for scleroderma are rare but can involve both the anterior and posterior segment. Eyelid changes are well documented in cases of scleroderma due to the sclerosis of connective tissue in the eyelid which can lead to stiffness and tightness.32-34 Lid stiffness has been found in 29% to 65% of patients and is associated with a hardened-like feeling on palpation and difficulty with lid eversion.33
Telangiectatic vessels on the lids may also be present in 17% to 21% of patients.33 Ocular surface disease has been found to occur in 37% to 79% of patients due to fibrotic impairment to the lacrimal gland that leads to reduced tear production.33 Although the collagen rich cornea is not often directly affected by scleroderma, eyelid changes and ocular surface disease can lead to corneal issues such as exposure keratitis, filamentous keratitis and PUK.
The association between glaucoma and scleroderma is still being researched, but it is believed that patients with scleroderma can have changes in vascular perfusion to the nerve and/or fibrotic-restricted outflow of the aqueous humor, which could lead to normal tension or open-angle glaucoma depending on the mechanism.32-35 The retina and choroid are highly vascularized structures; however, the retina may not be as affected by scleroderma when compared to the choroid due to immunologically favored microcirculation and a lack of resident fibroblasts.32
Psoriasis
This immune-mediated inflammatory skin condition may present in a variety of erythematous lesions. Some variants of psoriasis may present with scaly patches or plaques, confetti-like scaly patches, coalescent erythematous scales or pustules. Psoriasis affects 3.2% of adults and 0.13% of children in the US population and about 125 million people worldwide.35 It is imperative to recognize signs of psoriasis as patients can have ocular manifestations along with joint involvement, cardiometabolic disease, inflammatory bowel disease, and mental illness.36
The most common variant of psoriasis is plaque psoriasis, and it accounts for 80% to 90% of all psoriasis cases.36 The pathogenesis of psoriasis is characterized by excessive activation of the adaptive immune system. Specifically, a variety of innate immune cells such as keratinocytes, macrophages, natural killer T cells and plasmacytoid cells secrete cytokines that activate myeloid dendritic cells to further secrete excess cytokines, which then allows for differentiation of T cells. The maturation of T cells then secrete cytokines that begin the inflammatory cascade causing keratinocyte proliferation, angiogenesis, vasodilation, skin thickening and erythema.36
Contrary to the very apparent erythematous scaly lesions seen in psoriasis, ocular manifestations of psoriasis are subtle. Diagnostic workup for psoriasis requires a systemic and family history, as well as a skin and nail examination. Referral for a lesion skin biopsy may be required for definitive diagnosis.36
Ocular manifestations are wide ranging and may present as chronic conjunctivitis, blepharitis, keratitis sicca, madarosis, trichiasis, uveitis and symblepharon.37 The most common ocular presentation is chronic blepharoconjunctivitis, and this condition presents in up to 64.5% of patients.37 Psoriasis induced blepharitis is secondary to abnormal epidermal turnover that interferes with normal meibomian gland function. Conjunctivitis presenting with palpebral plaques or an accompanying symblepharon should raise suspicion for psoriasis. Uveitis and keratitis sicca have been reported in up to 20% and 18.75% of patients, respectively.37
Vasculitis
The vasculitides include a diverse list of conditions such as giant cell arteritis (GCA), granulomatosis with polyangiitis, polyarteritis nodosa, Bechet’s disease and Kawasaki’s disease. These conditions are affected by immune-mediated vessel inflammation, which leads to the compromise of the normal vessel lumen, resulting in stenosis, occlusion, or aneurysmal formation. As a result, a range of tissue ischemia and/or necrosis of organs can occur. Overall, the pathophysiology of vasculitis is hypothesized to be due to an immunological component that plays an active role in inflammation of vessels. These cytokine-mediated changes along with inappropriate activation of leukocytes and endothelial cells are key factors that cause vessel inflammation and damage.38 As an eyecare provider, failure to recognize ocular signs related to vasculitis can be devastating, if not fatal.
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Due to history of known MS and new ganglion cell loss OS, an updated MRI was ordered, which showed progression with new active demyelinating lesions. Click image to enlarge. |
The orbital fat, orbital nerves, extraocular muscles, lacrimal gland, the optic nerve and adnexa are all susceptible to ischemia and necrosis. Patients suffering from vasculitis can present with a range of symptoms from mild ocular pain to severe vision loss. Inflammatory vasculitides include many conditions which we review here:
GCA. This is the most common of the systemic vasculitides and considered to be a medical emergency.39 GCA is characterized by segmental inflammation, necrosis of smooth muscles and thickening of internal elastic lamina of medium to large caliber arteries.40 Symptoms of GCA include unilateral temporal headache, scalp tenderness, stiffness of neck, shoulder pain, jaw claudication and vision loss. Laboratory results include elevated c-reactive protein and erythrocyte sedimentation rate. Arteritic anterior ischemic optic neuropathy is a common ocular manifestation of GCA that may develop in approximately 80% of patients who have been diagnosed with GCA.41
Granulomatosis with polyangiitis. This is a common vasculitis characterized by necrosis of tissue and granulomatous inflammation of the small to medium blood vessels. GPA is strongly associated with anti-neutrophil cytoplasmic antibodies (ANCAs), as it can be identified in 80% to 90% of cases.40 This disease most often affects the respiratory system and kidneys but could have orbital manifestations in 15% to 20% of patients. Orbital involvement may include optic nerve compression and/or infiltration, mass effect on extraocular muscles and inflammation of lacrimal glands.40
Polyarteritis nodosa. This is a rare necrotizing vasculitis of small and medium arteries. The vasculitis is segmental and focal and can be found in any artery throughout the body. In late stages, the necrotizing lesions begin to heal and fibrose, leading to vessel occlusion. This condition can affect multiple organ systems such as joints/bones, peripheral nervous system, central nervous system, kidneys, heart and gastrointestinal system. Ocular manifestations include retinal vasculitis, ischemic optic neuropathy, extraocular muscle dysfunction, peripheral ulcerative keratitis or scleritis.40,42
Bechet’s disease. This condition has been known to affect the small- and medium=sized vessels due to neutrophil and fibrin invasion of the vessel lumen, leading to thrombosis and occlusion of vessels.40 Bechet’s disease is associated with positive HLA-B51 in laboratory testing. Ocular involvement has been reported in approximately 70% of patients with uveitis as the most common ocular manifestation.42,43 Less commonly, those with Bechet’s disease can also present with retinal vasculitis.
Kawasaki’s disease. This is a systemic vasculitis that affects the medium sized vessels and predominately occurs in children under the age of five. This form of vasculitis mainly affects the coronary arteries and if left untreated, aneurysms can form in roughly 30% of patients.40 The most common ocular manifestation is conjunctivitis, but anterior uveitis, macular edema and optic nerve edema have been reported.42
Ocular presentation of the vasculitides is varied and requires a thorough history, evaluation, laboratory testing, imaging and occasionally a biopsy to determine the underlying etiology. Often the ocular findings are the initial presentation of what may be a life-threatening condition and optometrists must be diligent to ensure patients receive appropriate and timely referrals.42
Takeaways
Autoimmune conditions are frequently associated with various comorbidities and systemic complications that have an impact on quality of life. Optometrists can play an important role in comanaging their patients’ general health alongside other specialties such as rheumatology by monitoring for common ocular signs and symptoms of autoimmune diseases.
Dr. Chen is a staff optometrist at the Charlotte VA Health Care Center. She received her Doctor of Optometry from Salus University, Pennsylvania College of Optometry in 2019. She then went on to complete her residency at the W.G. (Bill) Hefner VA Medical Center. She also serves as an examiner at the National Board of Examiners in Optometry and as secretary of the North Carolina Chapter of American Academy of Optometry.
Dr. Jay is an active staff optometrist at the Kernersville VA Health Care Center in Kernersville, NC. She received her Doctor of Optometry from The Ohio State University College of Optometry in 2020. She then went on to complete her ocular disease/primary eye care residency at the W.G. (Bill) Hefner VA Medical Center. She is a fellow of the American Academy of Optometry and serves as vice president of the North Carolina Chapter of American Academy of Optometry.
Dr. Njeru is a staff optometrist at the Chillicothe VA Medical Center. He graduated from The Ohio State University College of Optometry and completed his ocular disease residency at the Chillicothe and Columbus VA. He is a fellow of the American Academy of Optometry.
Dr. Spotts graduated from Pennsylvania College of Optometry in 2001 and went on to complete a primary care residency at Northeastern State University Oklahoma College of Optometry from 2005 to 2006. He is currently an optometrist at Charlotte VA Health Care Center. They have no financial disclosures.
