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Learning Objectives
1. To describe the ocular symptoms and signs associated with common systemic diseases Systemic Diseases with Ocular 2. To be familiar with the non-ophthalmic Manifestations features of common systemic diseases Dr Nathan Kerr
NM Kerr 2008
Reading List Introduction
Required reading: Further reading: • Nil • Chapter 20: Systemic Diseases.Kanski, J. Clinical Ophthalmology: A Systematic Approach
"The Eyes Are The Windows To The Soul" Nicole Buske 1995 NM Kerr 2008 NM Kerr 2008
Introduction Significance
1. A patient with a known systemic condition may present to you for an eye Systemic diseases are diseases that involve examination; therefore, you need to know many organs or the whole body what to look for Many of these diseases also affect the eye 2. The presenting eye problem may be the first sign of an underlying systemic disease
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Classification of Systemic Diseases
• Autoimmune diseases • Systemic infections • Metabolic diseases • Cardiovascular diseases Autoimmune Diseases • Congenital disorders
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Rheumatoid Arthritis Rheumatoid Arthritis
• Affects 1-3% of the population • Prevalence increases with age • Most patients are between 30 and 55 years of age • Women are more commonly affected
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Rheumatoid Arthritis Rheumatoid Arthritis
Common symptoms: • Joint stiffness, pain, warmth, and deformity • Fatigue • Flu-like symptoms • Rheumatoid nodules or lumps of tissue under the skin
25% of patients have ocular manifestations NM Kerr 2008 NM Kerr 2008
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Rheumatoid Arthritis Rheumatoid Arthritis
Ocular manifestations: Ocular manifestations: • Keratoconjunctivitis • Keratoconjunctivitis sicca sicca • Episcleritis • Episcleritis • Scleritis • Scleritis • Keratitis • Keratitis • Peripheral ulcerative • Peripheral ulcerative keratitis keratitis
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Episcleritis Scleritis
Symptoms: Signs: Symptoms: Signs: • Sudden onset • Normal visual acuity • Gradual onset • Decreased visual • Mild ache • No tenderness on • Deep boring pain acuity • Photophobia palpation which may wake • Tenderness on • No blurred vision • Episcleral injection patient at night palpation • Nodules • Photophobia • Bluish hue • Vessels moveable • Blurred vision • Scleromalacia and blanch with phenylephrine
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Rheumatoid Arthritis Systemic Lupus Erythematosus
Ocular manifestations: • Keratitis • Most patients • Peripheral ulcerative between 25-35 years keratitis • 90% of patients are women • Maori and Pacific Island people more commonly affected
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Systemic Lupus Erythematosus Systemic Lupus Erythematosus
• Multisystem disease • Skin: butterfly rash and with widespread discoid rash inflammation of blood • Heart: inflammation of vessels (vasculitis) the heart (myocarditis) and tissue damage • Lungs: inflammation of • Caused by numerous the lining of the lungs autoantibodies and (pleuritis) and collection circulating immune of fluid around the lungs complexes (pleural effusion)
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Systemic Lupus Erythematosus Systemic Lupus Erythematosus
• Blood vessels: Ocular manifestations inflammation of blood • Common: kerato- vessels (vasculitis) conjunctivitis sicca, leading to blockage madarosis (arterial and venous • Uncommon: occlusions) peripheral ulcerative • Kidneys: inflammation of keratopathy the kidneys • Rare: scleritis, optic (glomerulonephritis) neuropathy, optic 20% of patients have ocular • Neurological: stroke and neuritis, hemianopia, manifestations nerve palsies cranial nerve palsies NM Kerr 2008 NM Kerr 2008
Systemic Lupus Erythematosus Sjögren Syndrome
Ocular manifestations • Autoimmune destruction of • Rare: retinal disease the lacrimal and salivary (cotton wool spots, glands retinal haemorrhages, • Onset between 30 and 50 retinal vasculitis, years of age proliferative • 90% of patients are female retinopathy)
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Sjögren Syndrome Sjögren Syndrome
Primary Secondary Symptoms: • Occurs in isolation • Associated with other • Dry mouth diseases such as • Dry eye rheumatoid arthritis • Enlargement of the and systemic lupus parotid glands erythematosus
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Sjögren Syndrome Behçet Disease
Ocular manifestations: • Keratoconjunctivitis • Recurrent oral/genital sicca ulceration • More common in men than women • Associated with Eastern Mediterranean and Japan ethnicity and HLA-B51
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Behçet Disease Behçet Disease
Common ocular manifestations: • Recurrent anterior uveitis • Recurrent oral/genital (often with hypopyon) ulceration • Retinal infiltrates • Skin lesions • Retinal vasculitis • Cutaneous • Retinal oedema hypersensitivity • Vitritis (dermatographism)
90% of men and 70% of women have ocular manifestations
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Behçet Disease Sarcoidosis
Rare ocular manifestations: • Conjunctivitis • Conjunctival ulcers Multi-system • Episcleritis granulomatous disorder • Sclertis • Ophthalmoplegia
A granuloma is a mass or nodule of chronically inflamed tissue
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Sarcoidosis Sarcoidosis
Clinical presentation: • Peak incidence in • Common: acute early adult life onset, fever, • More common in shortness of breath, women than men skin rash, joint pain • More common and • Less common: severe in Maori and insidious onset in Pacific Island people later life, fatigue, • Uncommon in Asians shortness of breath, Sarcoidosis most commonly joint pain affects the lungs and skin
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Sarcoidosis Sarcoidosis
Clinical features: • Lungs: enlarged lymph Ocular manifestations: nodes, scarring • Involvement of (fibrosis) of the lungs lacrimal gland • Skin: rash (erythema nodosum) • Other: enlarged parotid glands • Blood tests: elevated calcium, elevated angiotensin converting enzyme (ACE) NM Kerr 2008 NM Kerr 2008
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Sarcoidosis Sarcoidosis
Ocular manifestations: Ocular manifestations: • Acute anterior uveitis • Periphlebitis • Chronic anterior uveitis (granulomatous) • Intermediate uveitis
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Sarcoidosis Sarcoidosis
Ocular manifestations: Ocular manifestations: • Choroidal infiltrates • Optic nerve • Multifocal choroiditis involvement • Retinal granulomas • Intracranial granulomas • Meningeal infiltration • Cranial nerve palsies (especially facial)
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Graves’ Disease Graves’ Disease
• Most common cause of an over active thyroid gland Caused by (hyperthyroidism) autoantibodies that • Presents between 30 stimulate the thyroid and 60 years of age gland • 90% of patients are female
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Graves’ Disease Graves’ Disease
Ocular manifestations: Symptoms: • Thyroid eye disease • Enlargement of the – soft tissue involvement thyroid (goitre) – lid retraction • Heat intolerance – proptosis • Anxiety – optic neuropathy • Tremor – restrictive myopathy
25-50% of patients with Graves’ have eye involvement
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Graves’ Disease Graves’ Disease
Ocular manifestations: Ocular manifestations: • Thyroid eye disease • Thyroid eye disease – soft tissue – soft tissue involvement involvement – lid retraction – lid retraction – proptosis – proptosis – optic neuropathy – optic neuropathy – restrictive myopathy – restrictive myopathy
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Graves’ Disease Multiple Sclerosis
Ocular manifestations: Multiple sclerosis is an • Thyroid eye disease autoimmune disorder – soft tissue where patches of involvement inflammation damage – lid retraction the myelin sheath of – proptosis neurons in the central – optic neuropathy nervous system (brain – restrictive myopathy and spinal cord) but not the peripheral nervous system
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Multiple Sclerosis Multiple Sclerosis
Clinical features: • Brain: euphoria, • Peak age of onset is confusion, dementia, 20-40 years of age slurred speech, • 67% of patients are weakness, unsteady female walking • Brain stem: diplopia, • Common in sensory loss on the temperate zones; rare face (CN V), facial in the tropics weakness (CN VII) • Spinal cord: weakness, sensory loss
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Multiple Sclerosis Giant Cell Arteritis
• Granulomatous Ocular manifestations: necrotising arteritis • Input (afferent): optic • Predilection for large neuritis and medium-sized • Output (efferent): arteries (termporal, internuclear ophthalmic, posterior ophthalmoplegia, ciliary, and proximal nystagmus, cranial vertebral) nerve palsies
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Giant Cell Arteritis Giant Cell Arteritis
Common symptoms: Ocular manifestations: • Headache • Common: arteritic • Temporal tenderness anterior ischaemic • Jaw claudication optic neuropathy • Proximal muscle • Uncommon: stiffness amaurosis fugax, cotton wool spots, • Fatigue central retinal artery • Night sweats occlusion, cilioretinal • Weight loss artery occlusion, cranial nerve palsies NM Kerr 2008 NM Kerr 2008
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Systemic Infections
Systemic Diseases with Ocular Manifestations: Part II Dr Nathan Kerr
Acquired Immunodeficiency Syndrome Acquired Immunodeficiency Syndrome
• Acquired immunodeficiency • HIV targets CD4 cells syndrome (AIDS) is which are vital to the caused by the human initiation of an immunodeficiency immune response to virus (HIV) pathogens • Global pandemic • A steady decline in • Predominately affects CD4 cells occurs young adults and leading to progressive children immunodeficiency
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Acquired Immunodeficiency Syndrome Acquired Immunodeficiency Syndrome
Common symptoms: Ocular manifestations: • Acute seroconversion • Orbit: orbital cellulitis illness: sore throat, from sinus infection fever, malaise, sore • Lids: Kaposi sarcoma, joints, rash molluscum • Asymptomatic infection: contagiosum, herpes no symptoms zoster ophthalmicus • Symptomatic infection: • Conjunctiva: Kaposi opportunistic infections sarcoma, squamous cell carcinoma Ocular complications occur in 75% of AIDS patients NM Kerr 2008 NM Kerr 2008
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Acquired Immunodeficiency Syndrome Acquired Immunodeficiency Syndrome
Ocular manifestations: Ocular manifestations: • Anterior segment: • Posterior segment: keratitis due to cotton wool spots keratoconjunctivitis (HIV retinopathy), sicca, herpes simplex cytomegalovirus virus, and herpes retinitis, progressive zoster; anterior uveitis outer retinal necrosis, chorioretinitis, choroiditis, B-cell intraocular lymphoma
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Acquired Syphilis Acquired Syphilis
Primary • Painless ulcer
Secondary • Enlarged lymph glands • Rash on trunk and hands • Mucous patches in Treponema pallidum the mouth
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Acquired Syphilis Acquired Syphilis
Latent Investigations • Can only be detected • VDRL by serological (blood) tests • FTA-ABS
Tertiary Management • Cardiovascular: • Penicillin inflammation of aorta • Neurosyphilis: general paralysis of the insane, gummata
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Acquired Syphilis Congenital Syphilis
Ophthalmic manifestations Early Signs Late signs • Common: Madarosis and keratitis • Rhinitis (runny nose) • Sensorineural deafness • Uncommon: Anterior uveitis, chorioretinitis, • Failure to thrive periarteritis, and neuroretinitis • Rash • Various deformities • Rare: Optic neuritis and Argyll Robertson pupils • Fissures around lips and anus • Pneumonia • Enlarged liver • Jaundice
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Congenital Syphilis Tuberculosis
Ocular manifestations: • Common: anterior Tuberculosis is a uveitis and interstitial chronic keratitis granulomatous • Uncommon: infection caused by pigmentary Mycobacterium retinopathy tuberculosis
A granuloma is a mass or nodule of chronically inflamed tissue NM Kerr 2008 NM Kerr 2008
Tuberculosis Tuberculosis
• Tuberculosis is common worldwide • Asians and Pacific • Mycobacterium Island people have tuberculosis settles in the highest rates of the lungs and causes tuberculosis inflammation which • Spread by close heals with scarring contact with an infected person
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Tuberculosis Tuberculosis
Symptoms: Investigations: • No symptoms when • Sputum first exposed • Chest xray • Chronic cough • Mantoux test • Night sweats • Malaise • Loss of appetite • Weight loss
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Tuberculosis
Ocular manifestations: • Uncommon: granulomatous anterior uveitis, multi- focal choroiditis, Metabolic Diseases retinal periphlebitis • Rare: solitary granulomas
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Diabetes Mellitus Diabetes Mellitus
Type I Type II • Onset between 10 and 20 • Onset between 50 and 70 • Polydipsia (drinking a lot) • Often discovered by • Polyuria (passing large chance Common metabolic disorder characterised amount of urine) • Caused by obesity which by elevated blood sugars • Weight loss leads to insulin resistance • Caused by autoimmune destruction of the cells in the pancreas that make insulin
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Diabetes Mellitus Diabetes Mellitus
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Diabetes Mellitus Diabetes Mellitus
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Diabetes Mellitus Diabetes Mellitus
Monitoring Treatment Ocular manifestations: • Blood glucose • Type I: insulin • Retinopathy • HbA1c • Type II: oral • Cataract • Urine testing hypoglycaemics and then insulin • Pupil-sparing third • Foot sensation nerve palsy • Papillitis
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Hypertension
• Defined as blood pressure greater than Cardiovascular Diseases 140/90 • Usually presents in fifth and sixth decades • Asymptomatic
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Hypertension Hypertension
Ocular manifestations: • Retinal arteriosclerosis Complications • Hypertensive • Stroke retinopathy • Enlarged heart • Retinal artery • Heart attack occlusion • Kidney damage • Retinal artery macroaneurysm • Anterior ischaemic optic neuropathy
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Carotid Stenosis Carotid Stenosis
• Narrowing of the Ocular manifestations: carotid artery • Amaurosis fugax • Usually caused by • Retinal emboli atherosclerosis • Retinal artery (hardening of the occlusion arteries) • Ocular ischaemic syndrome
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Carotid Stenosis
Investigations: • Carotid duplex ultrasound • Angiography Congenital Disorders
Management: • Stop smoking • Aspirin • Warfarin • Surgery NM Kerr 2008
Neurofibromatosis Neurofibromatosis
• Neurofibromatosis is a genetic disorder of Symptoms/signs: the nervous system • Neurofibromas • It affects how nerve • Cafe-au-lait spots cells form and grow • Freckles in armpits • It causes tumors to grow on nerves • Malignancies
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Neurofibromatosis
Ocular manifestations: • Eyelid neurofibromas • Lisch nodules Conclusion • Optic nerve glioma • Other neural orbital tumours
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Key Points
• Systemic diseases may have ocular manifestations • Always take a medical history from every patient and look specifically for ocular manifestations of their disease • Remember that an eye condition may be the first sign of a systemic disease
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