Learning Objectives. Introduction. Reading List. Significance. Introduction 10/16/2008

Transcription

1 Learning Objectives Systemic Diseases with Ocular Manifestations Dr Nathan Kerr 1. To describe the ocular symptoms and signs associated with common systemic diseases 2. To be familiar with the non-ophthalmic features of common systemic diseases Reading List Introduction Required reading: Nil Further reading: Chapter 20: Systemic Diseases.Kanski, J. Clinical Ophthalmology: A Systematic Approach "The Eyes Are The Windows To The Soul" Nicole Buske 1995 Introduction Significance Systemic diseases are diseases that involve many organs or the whole body Many of these diseases also affect the eye 1. A patient with a known systemic condition may present to you for an eye examination; therefore, you need to know what to look for 2. The presenting eye problem may be the first sign of an underlying systemic disease 1

2 Classification of Systemic Diseases Autoimmune diseases Systemic infections Metabolic diseases Cardiovascular diseases Congenital disorders Autoimmune Diseases 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 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 2

3 Rheumatoid Arthritis Rheumatoid Arthritis Keratoconjunctivitis sicca Episcleritis Scleritis Keratitis Peripheral ulcerative keratitis Keratoconjunctivitis sicca Episcleritis Scleritis Keratitis Peripheral ulcerative keratitis Episcleritis Scleritis Symptoms: Sudden onset Mild ache Photophobia No blurred vision Signs: Normal visual acuity No tenderness on palpation Episcleral injection Nodules Vessels moveable and blanch with phenylephrine Symptoms: Gradual onset Deep boring pain which may wake patient at night Photophobia Blurred vision Signs: Decreased visual acuity Tenderness on palpation Bluish hue Scleromalacia Rheumatoid Arthritis Keratitis Peripheral ulcerative keratitis Systemic Lupus Erythematosus Most patients between years 90% of patients are women Maori and Pacific Island people more commonly affected 3

4 Systemic Lupus Erythematosus Systemic Lupus Erythematosus Multisystem disease with widespread inflammation of blood vessels (vasculitis) and tissue damage Caused by numerous autoantibodies and circulating immune complexes Skin: butterfly rash and discoid rash Heart: inflammation of the heart (myocarditis) Lungs: inflammation of the lining of the lungs (pleuritis) and collection of fluid around the lungs (pleural effusion) Systemic Lupus Erythematosus Systemic Lupus Erythematosus 20% of patients have ocular manifestations Blood vessels: inflammation of blood vessels (vasculitis) leading to blockage (arterial and venous occlusions) Kidneys: inflammation of the kidneys (glomerulonephritis) Neurological: stroke and nerve palsies Ocular manifestations Common: keratoconjunctivitis sicca, madarosis Uncommon: peripheral ulcerative keratopathy Rare: scleritis, optic neuropathy, optic neuritis, hemianopia, cranial nerve palsies Systemic Lupus Erythematosus Ocular manifestations Rare: retinal disease (cotton wool spots, retinal haemorrhages, retinal vasculitis, proliferative retinopathy) Sjögren Syndrome Autoimmune destruction of the lacrimal and salivary glands Onset between 30 and 50 years of age 90% of patients are female 4

5 Sjögren Syndrome Sjögren Syndrome Primary Occurs in isolation Secondary Associated with other diseases such as rheumatoid arthritis and systemic lupus erythematosus Symptoms: Dry mouth Dry eye Enlargement of the parotid glands Sjögren Syndrome Behçet Disease Keratoconjunctivitis sicca Recurrent oral/genital ulceration More common in men than women Associated with Eastern Mediterranean and Japan ethnicity and HLA-B51 Behçet Disease Behçet Disease Recurrent oral/genital ulceration Skin lesions Cutaneous hypersensitivity (dermatographism) Common ocular manifestations: Recurrent anterior uveitis (often with hypopyon) Retinal infiltrates Retinal vasculitis Retinal oedema Vitritis 90% of men and 70% of women have ocular manifestations 5

6 Behçet Disease Rare ocular manifestations: Conjunctivitis Conjunctival ulcers Episcleritis Sclertis Ophthalmoplegia Multi-system granulomatous disorder A granuloma is a mass or nodule of chronically inflamed tissue most commonly affects the lungs and skin Peak incidence in early adult life More common in women than men More common and severe in Maori and Pacific Island people Uncommon in Asians Clinical presentation: Common: acute onset, fever, shortness of breath, skin rash, joint pain Less common: insidious onset in later life, fatigue, shortness of breath, joint pain Clinical features: Lungs: enlarged lymph nodes, scarring (fibrosis) of the lungs Skin: rash (erythema nodosum) Other: enlarged parotid glands Blood tests: elevated calcium, elevated angiotensin converting enzyme (ACE) Involvement of lacrimal gland 6

7 Acute anterior uveitis Chronic anterior uveitis (granulomatous) Intermediate uveitis Periphlebitis Choroidal infiltrates Multifocal choroiditis Retinal granulomas Optic nerve involvement Intracranial granulomas Meningeal infiltration Cranial nerve palsies (especially facial) Graves Disease Graves Disease Most common cause of an over active thyroid gland (hyperthyroidism) Presents between 30 and 60 years of age 90% of patients are female Caused by autoantibodies that stimulate the thyroid gland 7

8 Graves Disease Graves Disease Symptoms: Enlargement of the thyroid (goitre) Heat intolerance Anxiety Tremor 25-50% of patients with Graves have eye involvement Thyroid eye disease soft tissue involvement lid retraction proptosis optic neuropathy restrictive myopathy Graves Disease Graves Disease Thyroid eye disease soft tissue involvement lid retraction proptosis optic neuropathy restrictive myopathy Thyroid eye disease soft tissue involvement lid retraction proptosis optic neuropathy restrictive myopathy Graves Disease Multiple Sclerosis Thyroid eye disease soft tissue involvement lid retraction proptosis optic neuropathy restrictive myopathy Multiple sclerosis is an autoimmune disorder where patches of inflammation damage the myelin sheath of neurons in the central nervous system (brain and spinal cord) but not the peripheral nervous system 8

9 Multiple Sclerosis Peak age of onset is years of age 67% of patients are female Common in temperate zones; rare in the tropics Multiple Sclerosis Clinical features: Brain: euphoria, confusion, dementia, slurred speech, weakness, unsteady walking Brain stem: diplopia, sensory loss on the face (CN V), facial weakness (CN VII) Spinal cord: weakness, sensory loss Multiple Sclerosis Giant Cell Arteritis Input (afferent): optic neuritis Output (efferent): internuclear ophthalmoplegia, nystagmus, cranial nerve palsies Granulomatous necrotising arteritis Predilection for large and medium-sized arteries (termporal, ophthalmic, posterior ciliary, and proximal vertebral) Giant Cell Arteritis Giant Cell Arteritis Common symptoms: Headache Temporal tenderness Jaw claudication Proximal muscle stiffness Fatigue Night sweats Weight loss Common: arteritic anterior ischaemic optic neuropathy Uncommon: amaurosis fugax, cotton wool spots, central retinal artery occlusion, cilioretinal artery occlusion, cranial nerve palsies 9

10 Systemic Infections Systemic Diseases with Ocular Manifestations: Part II Dr Nathan Kerr Acquired Immunodeficiency Syndrome Acquired Immunodeficiency Syndrome Acquired immunodeficiency syndrome (AIDS) is caused by the human immunodeficiency virus (HIV) Global pandemic Predominately affects young adults and children HIV targets CD4 cells which are vital to the initiation of an immune response to pathogens A steady decline in CD4 cells occurs leading to progressive immunodeficiency Acquired Immunodeficiency Syndrome Acquired Immunodeficiency Syndrome Common symptoms: Acute seroconversion illness: sore throat, fever, malaise, sore joints, rash Asymptomatic infection: no symptoms Symptomatic infection: opportunistic infections Ocular complications occur in 75% of AIDS patients Orbit: orbital cellulitis from sinus infection Lids: Kaposi sarcoma, molluscum contagiosum, herpes zoster ophthalmicus Conjunctiva: Kaposi sarcoma, squamous cell carcinoma 10

11 Acquired Immunodeficiency Syndrome Anterior segment: keratitis due to keratoconjunctivitis sicca, herpes simplex virus, and herpes zoster; anterior uveitis Acquired Immunodeficiency Syndrome Posterior segment: cotton wool spots (HIV retinopathy), cytomegalovirus retinitis, progressive outer retinal necrosis, chorioretinitis, choroiditis, B-cell intraocular lymphoma Acquired Syphilis Acquired Syphilis Primary Painless ulcer Treponema pallidum Secondary Enlarged lymph glands Rash on trunk and hands Mucous patches in the mouth Latent Can only be detected by serological (blood) tests Tertiary Cardiovascular: inflammation of aorta Neurosyphilis: general paralysis of the insane, gummata Acquired Syphilis Investigations VDRL FTA-ABS Management Penicillin Acquired Syphilis 11

12 Acquired Syphilis Congenital Syphilis Ophthalmic manifestations Common: Madarosis and keratitis Uncommon: Anterior uveitis, chorioretinitis, periarteritis, and neuroretinitis Rare: Optic neuritis and Argyll Robertson pupils Early Signs Rhinitis (runny nose) Failure to thrive Rash Fissures around lips and anus Pneumonia Enlarged liver Jaundice Late signs Sensorineural deafness Various deformities Congenital Syphilis Common: anterior uveitis and interstitial keratitis Uncommon: pigmentary retinopathy Tuberculosis Tuberculosis is a chronic granulomatous infection caused by Mycobacterium tuberculosis A granuloma is a mass or nodule of chronically inflamed tissue Tuberculosis Tuberculosis Tuberculosis is common worldwide Asians and Pacific Island people have the highest rates of tuberculosis Spread by close contact with an infected person Mycobacterium tuberculosis settles in the lungs and causes inflammation which heals with scarring 12

13 Tuberculosis Tuberculosis Symptoms: No symptoms when first exposed Chronic cough Night sweats Malaise Loss of appetite Weight loss Investigations: Sputum Chest xray Mantoux test Tuberculosis Uncommon: granulomatous anterior uveitis, multifocal choroiditis, retinal periphlebitis Rare: solitary granulomas Metabolic Diseases Diabetes Mellitus Diabetes Mellitus Common metabolic disorder characterised by elevated blood sugars Type I Onset between 10 and 20 Polydipsia (drinking a lot) Polyuria (passing large amount of urine) Weight loss Caused by autoimmune destruction of the cells in the pancreas that make insulin Type II Onset between 50 and 70 Often discovered by chance Caused by obesity which leads to insulin resistance 13

14 Diabetes Mellitus Diabetes Mellitus Diabetes Mellitus Diabetes Mellitus Diabetes Mellitus Diabetes Mellitus Monitoring Blood glucose HbA1c Urine testing Foot sensation Treatment Type I: insulin Type II: oral hypoglycaemics and then insulin Retinopathy Cataract Pupil-sparing third nerve palsy Papillitis 14

15 Hypertension Cardiovascular Diseases Defined as blood pressure greater than 140/90 Usually presents in fifth and sixth decades Asymptomatic Hypertension Complications Stroke Enlarged heart Heart attack Kidney damage Hypertension Retinal arteriosclerosis Hypertensive retinopathy Retinal artery occlusion Retinal artery macroaneurysm Anterior ischaemic optic neuropathy Carotid Stenosis Carotid Stenosis Narrowing of the carotid artery Usually caused by atherosclerosis (hardening of the arteries) Amaurosis fugax Retinal emboli Retinal artery occlusion Ocular ischaemic syndrome 15

16 Carotid Stenosis Investigations: Carotid duplex ultrasound Angiography Congenital Disorders Management: Stop smoking Aspirin Warfarin Surgery Neurofibromatosis Neurofibromatosis Neurofibromatosis is a genetic disorder of the nervous system It affects how nerve cells form and grow It causes tumors to grow on nerves Symptoms/signs: Neurofibromas Cafe-au-lait spots Freckles in armpits Malignancies Neurofibromatosis Eyelid neurofibromas Lisch nodules Optic nerve glioma Other neural orbital tumours Conclusion 16

17 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 17