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10/16/2008
1
Systemic Diseases with Ocular
Manifestations
Dr Nathan Kerr
NM Kerr 2008
Learning Objectives
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
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Reading List
Required reading:
• Nil
Further reading:
• Chapter 20: Systemic
Diseases.Kanski, J.
Clinical Ophthalmology:
A Systematic Approach
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Introduction
"The Eyes Are The Windows To The Soul"
Nicole Buske 1995
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Introduction
Systemic diseases are diseases that involve
many organs or the whole body
Many of these diseases also affect the eye
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Significance
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
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Classification of Systemic Diseases
• Autoimmune diseases
• Systemic infections
• Metabolic diseases
• Cardiovascular diseases
• Congenital disordersAutoimmune Diseases
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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
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Rheumatoid Arthritis
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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
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Rheumatoid Arthritis
Ocular manifestations:
• Keratoconjunctivitis
sicca
• Episcleritis
• Scleritis
• Keratitis
• Peripheral ulcerative
keratitis
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Rheumatoid Arthritis
Ocular manifestations:
• Keratoconjunctivitis
sicca
• Episcleritis
• Scleritis
• Keratitis
• Peripheral ulcerative
keratitis
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Episcleritis
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
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Scleritis
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
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Rheumatoid Arthritis
Ocular manifestations:
• Keratitis
• Peripheral ulcerative
keratitis
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Systemic Lupus Erythematosus
• Most patients
between 25-35 years
• 90% of patients are
women
• Maori and Pacific
Island people more
commonly affected
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Systemic Lupus Erythematosus
• Multisystem disease
with widespread
inflammation of blood
vessels (vasculitis)
and tissue damage
• Caused by numerous
autoantibodies and
circulating immune
complexes
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Systemic Lupus Erythematosus
• 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)
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Systemic Lupus Erythematosus
• Blood vessels:
inflammation of blood
vessels (vasculitis)
leading to blockage
(arterial and venous
occlusions)
• Kidneys: inflammation of
the kidneys
(glomerulonephritis)
• Neurological: stroke and
nerve palsies20% of patients have ocular
manifestations
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Systemic Lupus Erythematosus
Ocular manifestations
• Common: kerato-
conjunctivitis sicca,
madarosis
• Uncommon:
peripheral ulcerative
keratopathy
• Rare: scleritis, optic
neuropathy, optic
neuritis, hemianopia,
cranial nerve palsies
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Systemic Lupus Erythematosus
Ocular manifestations
• Rare: retinal disease
(cotton wool spots,
retinal haemorrhages,
retinal vasculitis,
proliferative
retinopathy)
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Sjögren Syndrome
• Autoimmune destruction of
the lacrimal and salivary
glands
• Onset between 30 and 50
years of age
• 90% of patients are female
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Sjögren Syndrome
Primary
• Occurs in isolation
Secondary
• Associated with other
diseases such as
rheumatoid arthritis
and systemic lupus
erythematosus
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Sjögren Syndrome
Symptoms:
• Dry mouth
• Dry eye
• Enlargement of the
parotid glands
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Sjögren Syndrome
Ocular manifestations:
• Keratoconjunctivitis
sicca
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Behçet Disease
• Recurrent oral/genital
ulceration
• More common in men
than women
• Associated with
Eastern
Mediterranean and
Japan ethnicity and
HLA-B51
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Behçet Disease
• Recurrent oral/genital
ulceration
• Skin lesions
• Cutaneous
hypersensitivity
(dermatographism)
90% of men and 70% of women
have ocular manifestations
Behçet Disease
Common ocular manifestations:
• Recurrent anterior uveitis
(often with hypopyon)
• Retinal infiltrates
• Retinal vasculitis
• Retinal oedema
• Vitritis
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Behçet Disease
Rare ocular manifestations:
• Conjunctivitis
• Conjunctival ulcers
• Episcleritis
• Sclertis
• Ophthalmoplegia
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Sarcoidosis
Multi-system
granulomatous disorder
A granuloma is a mass or
nodule of chronically inflamed
tissue
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Sarcoidosis
• Peak incidence in
early adult life
• More common in
women than men
• More common and
severe in Maori and
Pacific Island people
• Uncommon in AsiansSarcoidosis most commonly
affects the lungs and skin
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Sarcoidosis
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
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Sarcoidosis
Clinical features:
• Lungs: enlarged lymph nodes, scarring (fibrosis) of the lungs
• Skin: rash (erythemanodosum)
• Other: enlarged parotid glands
• Blood tests: elevated calcium, elevated angiotensin converting enzyme (ACE)
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Sarcoidosis
Ocular manifestations:
• Involvement of
lacrimal gland
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Sarcoidosis
Ocular manifestations:
• Acute anterior uveitis
• Chronic anterior
uveitis
(granulomatous)
• Intermediate uveitis
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Sarcoidosis
Ocular manifestations:
• Periphlebitis
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Sarcoidosis
Ocular manifestations:
• Choroidal infiltrates
• Multifocal choroiditis
• Retinal granulomas
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Sarcoidosis
Ocular manifestations:
• Optic nerve
involvement
• Intracranial
granulomas
• Meningeal infiltration
• Cranial nerve palsies
(especially facial)
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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
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Graves’ Disease
Caused by
autoantibodies that
stimulate the thyroid
gland
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Graves’ Disease
Symptoms:
• Enlargement of the
thyroid (goitre)
• Heat intolerance
• Anxiety
• Tremor
25-50% of patients with Graves’
have eye involvement
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Graves’ Disease
Ocular manifestations:
• Thyroid eye disease
– soft tissue
involvement
– lid retraction
– proptosis
– optic neuropathy
– restrictive myopathy
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Graves’ Disease
Ocular manifestations:
• Thyroid eye disease
– soft tissue
involvement
– lid retraction
– proptosis
– optic neuropathy
– restrictive myopathy
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Graves’ Disease
Ocular manifestations:
• Thyroid eye disease
– soft tissue
involvement
– lid retraction
– proptosis
– optic neuropathy
– restrictive myopathy
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Graves’ Disease
Ocular manifestations:
• Thyroid eye disease
– soft tissue
involvement
– lid retraction
– proptosis
– optic neuropathy
– restrictive myopathy
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Multiple Sclerosis
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
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Multiple Sclerosis
• Peak age of onset is
20-40 years of age
• 67% of patients are
female
• Common in
temperate zones; rare
in the tropics
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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
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Multiple Sclerosis
Ocular manifestations:
• Input (afferent): optic
neuritis
• Output (efferent):
internuclear
ophthalmoplegia,
nystagmus, cranial
nerve palsies
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Giant Cell Arteritis
• Granulomatous
necrotising arteritis
• Predilection for large
and medium-sized
arteries (termporal,
ophthalmic, posterior
ciliary, and proximal
vertebral)
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Giant Cell Arteritis
Common symptoms:
• Headache
• Temporal tenderness
• Jaw claudication
• Proximal muscle
stiffness
• Fatigue
• Night sweats
• Weight loss
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Giant Cell Arteritis
Ocular manifestations:
• Common: arteritic
anterior ischaemic
optic neuropathy
• Uncommon:
amaurosis fugax,
cotton wool spots,
central retinal artery
occlusion, cilioretinal
artery occlusion,
cranial nerve palsies
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Systemic Diseases with Ocular
Manifestations: Part II
Dr Nathan Kerr
Systemic Infections
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Acquired Immunodeficiency Syndrome
• Acquired
immunodeficiency
syndrome (AIDS) is
caused by the human
immunodeficiency
virus (HIV)
• Global pandemic
• Predominately affects
young adults and
children
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Acquired Immunodeficiency Syndrome
• 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
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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
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Acquired Immunodeficiency Syndrome
Ocular manifestations:
• Orbit: orbital cellulitisfrom sinus infection
• Lids: Kaposi sarcoma, molluscumcontagiosum, herpes zoster ophthalmicus
• Conjunctiva: Kaposi sarcoma, squamouscell carcinoma
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Acquired Immunodeficiency Syndrome
Ocular manifestations:
• Anterior segment:
keratitis due to
keratoconjunctivitis
sicca, herpes simplex
virus, and herpes
zoster; anterior uveitis
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Acquired Immunodeficiency Syndrome
Ocular manifestations:
• Posterior segment:
cotton wool spots
(HIV retinopathy),
cytomegalovirus
retinitis, progressive
outer retinal necrosis,
chorioretinitis,
choroiditis, B-cell
intraocular lymphoma
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Acquired Syphilis
Treponema pallidum
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Acquired Syphilis
Primary
• Painless ulcer
Secondary
• Enlarged lymph glands
• Rash on trunk and hands
• Mucous patches in the mouth
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Acquired Syphilis
Latent
• Can only be detected by serological (blood) tests
Tertiary
• Cardiovascular: inflammation of aorta
• Neurosyphilis: general paralysis of the insane, gummata
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Acquired Syphilis
Investigations
• VDRL
• FTA-ABS
Management
• Penicillin
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Acquired Syphilis
Ophthalmic manifestations
• Common: Madarosis and keratitis
• Uncommon: Anterior uveitis, chorioretinitis,
periarteritis, and neuroretinitis
• Rare: Optic neuritis and Argyll Robertson pupils
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Congenital Syphilis
Early Signs
• Rhinitis (runny nose)
• Failure to thrive
• Rash
• Fissures around lips and anus
• Pneumonia
• Enlarged liver
• Jaundice
Late signs
• Sensorineuraldeafness
• Various deformities
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Congenital Syphilis
Ocular manifestations:
• Common: anterior
uveitis and interstitial
keratitis
• Uncommon:
pigmentary
retinopathy
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Tuberculosis
Tuberculosis is a
chronic
granulomatous
infection caused by
Mycobacterium
tuberculosis
A granuloma is a mass or
nodule of chronically inflamed
tissue
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Tuberculosis
• Tuberculosis is
common worldwide
• Asians and Pacific
Island people have
the highest rates of
tuberculosis
• Spread by close
contact with an
infected person
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Tuberculosis
• Mycobacterium
tuberculosis settles in
the lungs and causes
inflammation which
heals with scarring
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Tuberculosis
Symptoms:
• No symptoms when
first exposed
• Chronic cough
• Night sweats
• Malaise
• Loss of appetite
• Weight loss
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Tuberculosis
Investigations:
• Sputum
• Chest xray
• Mantoux test
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Tuberculosis
Ocular manifestations:
• Uncommon:
granulomatous
anterior uveitis, multi-
focal choroiditis,
retinal periphlebitis
• Rare: solitary
granulomas
Metabolic Diseases
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Diabetes Mellitus
Common metabolic disorder characterised
by elevated blood sugars
Diabetes Mellitus
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
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Diabetes Mellitus
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Diabetes Mellitus
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Diabetes Mellitus
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Diabetes Mellitus
Diabetes Mellitus
Monitoring
• Blood glucose
• HbA1c
• Urine testing
• Foot sensation
Treatment
• Type I: insulin
• Type II: oral
hypoglycaemics and then
insulin
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Diabetes Mellitus
Ocular manifestations:
• Retinopathy
• Cataract
• Pupil-sparing third
nerve palsy
• Papillitis
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Cardiovascular Diseases
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Hypertension
• Defined as blood
pressure greater than
140/90
• Usually presents in
fifth and sixth
decades
• Asymptomatic
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Hypertension
Complications
• Stroke
• Enlarged heart
• Heart attack
• Kidney damage
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Hypertension
Ocular manifestations:
• Retinal arteriosclerosis
• Hypertensive retinopathy
• Retinal artery occlusion
• Retinal artery macroaneurysm
• Anterior ischaemicoptic neuropathy
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Carotid Stenosis
• Narrowing of the
carotid artery
• Usually caused by
atherosclerosis
(hardening of the
arteries)
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Carotid Stenosis
Ocular manifestations:
• Amaurosis fugax
• Retinal emboli
• Retinal artery
occlusion
• Ocular ischaemic
syndrome
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Carotid Stenosis
Investigations:
• Carotid duplex
ultrasound
• Angiography
Management:
• Stop smoking
• Aspirin
• Warfarin
• Surgery
Congenital Disorders
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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
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Neurofibromatosis
Symptoms/signs:
• Neurofibromas
• Cafe-au-lait spots
• Freckles in armpits
• Malignancies
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Neurofibromatosis
Ocular manifestations:
• Eyelid neurofibromas
• Lisch nodules
• Optic nerve glioma
• Other neural orbital
tumours
Conclusion