paediatric ophthalmology gp registrars - 23rd july 2003 · outline of lecture • examination...
TRANSCRIPT
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Paediatric
Ophthalmology(in 120 minutes!)
FRACP Trainees – 4 July 2016
James Elder
Department of Ophthalmology, RCH
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Outline of Lecture
• Examination Techniques
– Vision
– Ocular motility & Binocular Vision
– Neuro-ophthalmology
– Assessment of globe
• Specific Conditions
FRACP 2016 2
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What is vision?
• Simple
– Acuity, colour,
contrast, field, depth
perception, motion
• Complex
– Extracting meaning
FRACP 2016 3
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Examination Techniques
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Assessment
• Objective
• Subjective
FRACP 2016 5
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Normal Visual Expectations
• Birth
– Brief fixation on
• face
• object
• light
FRACP 2016 6
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Normal Visual Expectations
• Six weeks
– Maintain fixation on face, object or light and
follow through 90 degrees
– Smiling and visual responsive (especially to a
face)
FRACP 2016 7
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Normal Visual Expectations
• Six months
– Reach for small object
– Actively follow object
FRACP 2016 8
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Normal Visual Expectations
• One year
– Reach for tiny objects (eg 100’s & 1000’s)
FRACP 2016 9
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Normal Visual Expectations
• 2 - 3 years
– Picture matching (Kay picture test)
• 3 - 4 years
– Letter matching (Sheridan Gardiner test)
• 5 years
– Snellen acuity
– logMAR tests
FRACP 2016 10
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How to assess an infant’s vision
• History
– Ask the parents
– Family history of eye problems
• Observation
– Watch child’s visual behaviour
• Tests
– Elicit visual behaviour
FRACP 2016 11
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Visual Acuity Tests
FRACP 2016 12
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When to refer?
• Suspect poor or sub-normal vision
• Visual acuity of 6/12 or worse
FRACP 2016 13
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Special tests of visual function
• Colour vision
• Visual field
• Stereoacuity
• Contrast sensitivity
FRACP 2016 14
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Colour Vision
FRACP 2016 15
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Visual Field
Perimetry
FRACP 2016 16
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Visual Field
Confrontation
FRACP 2016 17
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Stereoacuity
FRACP 2016 18
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Ocular Motility
• Duction = movement of one eye
• Version = movement of both eyes
• Duction ≠ Version
FRACP 2016 19
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Ocular Motility
Ductions
• Abduction
• Adduction
• Sursumduction (Elevation)
• Infraduction (Depression)
• (Cycloduction)
Versions
• Dextroversion
• Laevoversion
• Elevation
• Depression
• Convergence
• Divergence
• Cycloversion
FRACP 2016 20
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Ocular Motility
FRACP 2016 21
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Classification of squint -
simplified
FRACP 2016 22
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Binocular Vision
• Aim: stereoscopic depth perception
• Downsides:
– Diplopia
– Amblyopia
FRACP 2016 23
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Binocular Vision
• Phoria vs Tropia
• Phoria = latent misaligment of eyes
• Tropia = manifest misaligment of eyes
= more significant problem
FRACP 2016 24
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Detection of Squint
• Observation
• Cover test
• Eye movements
FRACP 2016 25
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Detection of Squint
• Observation
• Cover test
• Eye movements
FRACP 2016 26
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Detection of Squint
• Observation
• Cover test
• Eye movements
FRACP 2016 27
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Detection of Squint
• Observation
• Cover test
• Eye movements
FRACP 2016 28
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Detection of Squint
• Observation
• Cover test
• Eye movements
FRACP 2016 29
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Cover test
FRACP 2016 30
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Detection of Squint
• Observation
• Cover test
• Eye movements
FRACP 2016 31
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Additional examination
• Visual acuity
• Red reflex (children)
• General examination
FRACP 2016 32
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Red reflex
FRACP 2016 33
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Neuro-ophthalmology
• Pupil reactions
• Optic nerve function
• Examination of optic disc
• Visual field defects
• Nystagmus & odd eye mevements
FRACP 2016 34
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Neuro-ophthalmology
• Pupil reactions
– Direct
– Consensual
– Near reflex
– Relative afferent defect
– Beware of neonatal & pharmacological miosis
FRACP 2016 35
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Neuro-ophthalmologyAnatomy of Pupil Response
FRACP 2016 36
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Neuro-ophthalmology
• RAPD = relative
afferent pupil defect
• Sensitive measure of
retinal and/or optic
nerve dysfunction
• Compares afferent
input to pupillary
response of the two
eyes FRACP 2016 37
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Neuro-ophthalmology
• Optic nerve function
– RAPD
– Colour vision
– Red desaturation
– Visual acuity
– Visual field
FRACP 2016 38
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Examination of Optic Nerve
• Direct ophthalmoscope
• Dilated pupil helps enormously
(tropicamide 1% very safe)
• Dim room lighting
• Child fixes on distant target
• Approach 10-15o from visual axis
• Your right eye for child’s right eye, etc
FRACP 2016 39
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Normal Optic Disc
FRACP 2016 40
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Papilloedema
FRACP 2016 41
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Optic disc hypoplasia
FRACP 2016 42
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Optic Disc Drusen
FRACP 2016 43
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Optic Atrophy
FRACP 2016 44
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Neuro-ophthalmologyVisual field defects
• Horizontal cut off think optic nerve
FRACP 2016 45
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Neuro-ophthalmologyVisual field defects
• Vertical cut off think chiasmal & retro-chiasmal
FRACP 2016 46
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Confrontation field
FRACP 2016 47
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Neuro-ophthalmology
• Nystagmus & odd eye movements
• Will cover later
FRACP 2016 48
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Globe
• Detection of
– Extra bits
– Clouldy bits
– Missing bits
– Most can be done with simple light source
(direct ophthalmoscope)
FRACP 2016 49
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Globe
• Red reflex
– Direct ophthalmoscope
– 0.5 – 1 m from child
FRACP 2016 50
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Strabismus
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Childhood squint - comitant
FRACP 2016 52
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Adult squint - incomitant
FRACP 2016 53
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Consequences of squint - I
Children
• Amblyopia
• Loss of binocular
depth perception
Adults
• Diplopia
FRACP 2016 54
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Causes of squint - children
• Primary failure of binocular control
• Abnormality of convergence or
divergence
• Refractive error
• Loss of vision in one eye
• Genetic tendency
FRACP 2016 55
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Accommodative esotropia
FRACP 2016 56
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Consequences of squint - II
• In both adults & children the head may be
turned to maximise binocular function
(abnormal or compensatory head posture)
FRACP 2016 57
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Management of squint
• Confirm presence of squint
• Measure vision (including stereoacuity)
• Document diplopia
• Measure deviation
• Measure refractive error
• Examine for other disease (ocular & non-
ocular)
• Determine need for special investigationsFRACP 2016 58
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Management of squint
• Prescribe glasses
• Treatment of amblyopia
• Surgery
FRACP 2016 59
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Aims of treatment
• Treat any associated amblyopia
• Minimise/overcome any diplopia
• Maximise binocular depth perception
• Improve binocular visual field (convergent
squints only)
• Improve cosmesis
FRACP 2016 60
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When to refer
• Squint definitely present
• Squint cannot be excluded
• Large angle squint before 6 months of age
• Any squint after 6 months (even if
intermittent)
• Urgent referral if red reflex is abnormal
FRACP 2016 61
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Watery Eyes
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Watery (& Sticky Eyes)
FRACP 2016 63
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Watery eyes
• Epiphoria is the result of
– Excess tear production
– Deficient tear drainage
FRACP 2016 64
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Corneal foreign body
FRACP 2016 65
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Corneal abrasion
FRACP 2016 66
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Subtarsal foreign body
FRACP 2016 67
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An approach to
watery eyes
in children
FRACP 2016 68
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Sticky Eyes & Infections
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Sticky eyes
• Discharge consists of mucus &
inflammatory cells +/- pathogens
• Does not always indicate infection
FRACP 2016 70
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Gonococcal conjunctivitis (Ophthalmia neonatorum)
FRACP 2016 71
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Sac Abscess
FRACP 2016 72
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Pre-septal cellulitis
FRACP 2016 73
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Orbital cellulitis
FRACP 2016 74
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Pre-septal vs orbital cellulitis
FRACP 2016 75
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Pre-septal vs orbital cellulitis
Pre-septal
• Sick
• Swollen lids
• Normal vision
• Normal pupil reaction
• Normal eye position
• Normal eye movements
Orbital
• Very sick
• Lids red +/- swollen
• Vision may be down
• May have RAPD
• Proptosis
• Restricted eye
movements +/- pain
FRACP 2016 76
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Trauma
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Trauma to child’s eye
• Physical
– Blunt
– Sharp/penetrating
• Chemical
• Electromagnetic
– Thermal
– Radiotherapy
– LightFRACP 2016 78
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Hyphema - blunt trauma
FRACP 2016 79
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Blow-out fracture - blunt trauma
FRACP 2016 80
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Penetrating injuries
FRACP 2016 81
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Chemical trauma !
FRACP 2016 82
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Non-Accidental Injury
FRACP 2016 83
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What causes haemorrhage?
• Loss of integrity of vascular system!
• Disruption of vessel
– Cut or tear vessel
– Burst /rupture vessel
• Failure of clotting mechanisms
• Abnormal vessel fragility
FRACP 2016 84
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Potential causes of retinal
haemorrhage in infants
• Direct trauma to globe
• Clotting abnormalities
• Transmitted pressure
FRACP 2016 85
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Potential causes of retinal
haemorrhage in infants
• Leukaemia
• Haemorrhagic disease of the newborn
• Sickle Cell retinopathy
• ECMO treatment
• Retinopathy of prematurity
• As part of disease (frequent)
• As result of handling with neck flexion & extension
(uncertain)
• As the result of Retcam examination (rare)
• Galactosemia
• Henoch-Schonlein purpura
• Thrombocytopaenic purpura
• Maternal ingestion of Cocaine
• Meningitis
• Intracranial vascular malformation
• Optic disc drusen
• Retinal astrocytoma in tuberous sclerosis
• X-linked retinoschisis
• Intraocular surgery
• Severe hypertensionGalactosemia
• Homocystinuria
• Glutaric aciduria*
• Osteogenesis Imperfecta
• Osteoporosis- pseudoglioma syndrome
• Incontinentia Pigmenti
• Central retinal vein occlusion
• Infections
• Cytomegalovirus
• Herpes simplex type 6
• Herpes simplex type 1
• Malaria
• Meningococcal septicaemia*
• Streptococcus pyogenes meningitis*
• Strep. Pneumoniae meningitis*
• Congenital toxoplasmosis
• Fibromuscular dysplasia
• Terson’s syndrome**
• Asphyxia
FRACP 2016 86
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Potential causes of retinal haemorrhage
in infants with abusive head trauma
• Direct concussive force applied to the eye resulting in vessels
disruption (this mechanism may be a subset of the vitreo-retinal
traction mechanism below)
• Increased venous pressure transmitted from intracranial cavity or
central venous drainage in the chest
• Increased intracranial pressure resulting in localized venous
obstruction, either within the distal optic nerve or at the level of the
optic disc
• Direct spread of intracranial bleeding along the optic nerve (subdural
or subarachnoid spaces) into the eye
• Vitreo-retinal traction leading to rupture of retinal vessels and splitting
or elevation of the retina and rarely retinal dialysis or detachment.
FRACP 2016 87
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FRACP 2016 88
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Finite element analysis
FRACP 2016 89
Rangarajan, N., et al.
(2009).
J AAPOS 13(4): 364-
369
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Globe deformation with vitreous
traction
FRACP 2016 90
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Globe deformation with vitreous
traction
FRACP 2016 91
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Anisocoria
(Unequal Pupils)
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Unequal Pupils
• Simple anisocoria
• Pharmacological
• Third nerve palsy
• Horner’s syndrome
FRACP 2016 93
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Approach to Anisocoria
FRACP 2016 94
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Horner Syndrome – Clinical
Features
• Anisocoria (miosis)
• Ptosis (upper & lower eyelids)
• Anhidrosis
• Conjunctival hyperaemia (transient)
• Dilation lag (Anisocoria @ 5 sec > @ 15 sec)
• Iris heterochromia
• Harlequin sign (reduced facial flushing)
FRACP 2016 95
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Anatomy of the oculosympathetic
pathway
• 1st order neurons– Hypothalmus to lower
cervical/upper thoracic cord
• 2nd order neurons– Cord to superior cervical
ganglion
• 3rd order neurons– SCG to eye
Mughal and Longmuir Curr Neurol Neurosci Rep
2009; 9:384-9
FRACP 2016 96
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Clinical Assessment Confounders
• Essential (physiological) anisocoria
• Unrelated ptosis
• Local ocular causes of miotic pupil
FRACP 2016 97
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Diagnostic confirmation
• Cocaine• (Apraclonidine)
FRACP 2016 98
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Martin TJ
Current Neurology and Neuroscience Reports
2007, 7:397–406
• NE = norepinephrine
• a = apraclonidine
• α1 = alpha 1 receptor
• α2 = alpha 2 receptor
Mechanism of Action of
Diagnostic Agents
FRACP 2016 99
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Comparison of Agents
Agent Action Observation Use
Cocaine 4-10% Blocks
noradrenaline re-
uptake
Miotic pupil does not
dilate
Confirms
Diagnosis
Gold Standard
Apraclonidine 0.5-1%
(α2>> α1 agonist)
α1 agonist
de-innervation
hypersensitivity
Miotic pupil dilates more
than normal (reversal of
anisocoria)
Confirms
Diagnosis
FRACP 2016 100
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Comparison of Agents
Agent Difficulties
Cocaine 4-10% Availability
Stability
Apraclonidine 0.5-1% ? Sedation and cardiovascular SE in young
children
Hydroxyamphetamine 1% Not commercially available
False +ve with trans-synaptic degeneration
FRACP 2016 101
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Cocaine test
FRACP 2016 102
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Possible causes of Horner’s
syndrome (!)
• First-order neurons
• Pathology involving the hypothalamus, brainstem,
and spinal cord
• Infarction
• Haemorrhage
• Neoplasm
• Syringohydromyelia
• Second-order neurons
• Bronchogenic carcinoma
• Sympathetic schwannoma
• Neuroblastic tumors
• Enlarged thyroid
• Neck and upper thoracic surgery or other trauma
• Primary spinal nerve root tumours
• Osteophytes
• Second-order neurons (continued!!)
• Jugular venous ectasia
• Subclavian artery aneurysm
• Other neck lesions causing compression of the
cervical sympathetic chain
• Third-order neurons
• Internal carotid artery dissection
• Fibromuscular dysplasia
• Skull base lesions
• Cluster or migraine headaches
• Agenesis or arteritis of the internal carotid
artery
• Aneurysm of the petrous portion of the internal
carotid artery
• Cavernous sinus infl ammation, infection, or
neoplasm
• Rarely, orbital pathology: trauma or neoplasm
after surgery
FRACP 2016 103
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When to investigate?
• Acquired - all require thorough investigation if no pre-existing
diagnosis or history of iatrogenic injury
• Clinical examination
• Urinary catecholamine assay
• Imaging head & neck & chest (MRI > CT)
• ? MIBG scan (meta-iodobenzlguanidine)
FRACP 2016 104
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When to investigate?
• “Congenital”
• Often clinical uncertainty about time of
onset
• Question: How likely is an isolated
Horner’s syndrome in an infant to be due to
something sinister?FRACP 2016 105
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Pediatric Horner’s with no
known diagnosis at presentation
(CHOP, Philadelphia 1993-2005)
Number Comment
Patients 28 Further 28 with known diagnosis
Age years 2 Range 0.12 - 8.8
Idiopathic 21 1/56 birth trauma
Reactive lymph node 1 ? Age ? Acquired or not
Neuroblastoma 4
3 acquired Age 5 & 6 mths & 3 years
1 congenital Age 6 months
JXG 1 15 months - acquired
Ewings sarcoma 1 3 years - acquired
AJO 2006; 142: 651-9
Mahoney NR et al
FRACP 2016 106
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Horner’s syndrome < 1 year
(Single practice 1978-1995 CS Hoyt)
Number 23
Idiopathic 16
Birth trauma 4
Known neuroblastoma 1
Ganglioneuroma 1 Acquired Horner’s
Neuroblastoma 1 History unclear
Follow-up (years) Mean 9.3 & median 9 No new diagnoses made
BJO 1998; 82:51-4
George et al
FRACP 2016 107
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Demonstrable Horner’s syndrome
within the first 4 weeks of life
confirmed by photographs or examination
(HSC, Toronto & Wilmer, Baltimore – 10 year period)
+ve obstetric history -ve obstetric history
Number 16 15
No other diagnosis 15 10
Developmental delay 1 -
Congenital varicella - 2
Neuroblastoma - 1 (prior stridor & neck mass)
Lymph node (? Reactive) - 2
Follow-up (median/mean) 29 & 35 months 58 & 64 months
J AAPOS 1998; 2:159-67
Jeffery AR et alFRACP 2016 108
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Neuroblastoma & the Eye
• Ophthalmic features 80/405
• 60/80 orbital secondary
• 14/80 Horner’s syndrome
• 9/14 presented with Horner’s (2.2% overall)
• 11/405 presented with opsoclonus
Musarella MA et al – Ophthalmology 1984; 91:936-40
FRACP 2016 109
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Investigation of Horner’s
syndrome presenting < 1 year
• Acquired – INVESTIGATE
THOROUGHLY
• Not obviously acquired
– +ve obstetric trauma - ? Need to investigate
– -ve obstetric trauma
• Offer investigation: CXR & Uninary catecholamines
• Clinical review
• More extensive investigation (MRI, CT or MIBG)
questionableFRACP 2016 110
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Leukocoria
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White Pupil (= leukocoria)
• Anything within the eye that is pale will
result in a white or absent reflex and not a
red reflex
• Cataract
• Retinoblastoma
• Chorioretinal coloboma
FRACP 2016 112
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Cataract
FRACP 2016
• If suspect cataract
refer
• Many causes
• Most due to isolated
lens protein gene
mutations (AD > XL >
AR)
• Investigate if other
abnormalities113
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Retinoblastoma
FRACP 2016 114
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Retinoblastoma
• Present with leukocoria, squint, reduced
vision or family history
• Sporadic (one-off or new mutation)
• Inherited (autosomal dominant)
• Unilateral or bilateral
• Fatal if untreated, 98% survival with
treatment
• Early diagnosis increases chance of
preserving visionFRACP 2016 115
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RetinoblastomaTwo Hit Hypothesis
FRACP 2016 116
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RetinoblastomaPotential Treatments
• Surgery– Enucleation
• Irradiation– EBR, brachytherapy, proton beam
• Chemotherapy– Systemic, local (subconjunctival / intra-arterial / intravitreal)
• Cryotherapy– Transcleral (may require fornix incision)
• Laser– Thermotherapy / photocoagulation
FRACP 2016 117
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Principles of Rb Treatment
• If small a local treatment
• If larger areduce tumour mass & then
local treatment (SALT)
• If massive a often remove eye (consider
reduction especially if bilateral)
• May be different for bilateral disease
FRACP 2016 118
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Chorioretinal Coloboma
FRACP 2016 119
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Congenital Glaucoma
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Big eyes
FRACP 2016 121
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Primary congenital glaucoma
• Raised pressure in eye
• Stretches the young eye (<2 years)
• May damage the optic nerve and cornea
FRACP 2016 122
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Primary congenital glaucoma
• Watery eye (epiphoria)
• Light sensitive (photophobia)
• Corneal haze or cloudiness (corneal
oedema)
• Corneal enlargement
(buphthalmos = “ox eye”)
FRACP 2016 123
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Primary congenital glaucoma Treatment
• Medical
– Sometimes
– Be aware of systemic side effects
• β blockers
• α agonists
• Surgical
– Often
FRACP 2016 124
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Eyelids
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Droopy Eyelids
FRACP 2016 126
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Lumpy lids
FRACP 2016 127
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Wobbly Eyes
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Wobbly Eyes (most is
nystagmus)
• Motor
– Congenital nystagmus
– Variably reduced
vision
– Null point with
compensatory head
position
• Sensory
– Anything that reduces
vision significantly in
the first 4 months
– Albinism
– Untreated bilateral
cataract
– Retinal abnormality
FRACP 2016 129
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Nystagmus - Examples
FRACP 2016 130
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Nystagmus - Examples
FRACP 2016 131
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Not Nystagmus - Examples
FRACP 2016 132
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Not Nystagmus - Examples
FRACP 2016 133
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Not Nystagmus - Examples
FRACP 2016 134
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Cataract
Aniridia
Albinism
Cornea
Yes
Aniridia
ON hypoplasia
Coloboma
ROP
Yes
? ERG
Abnormal
Retinal
Function
? MRI
Rarely
CNS
Pathology
No
Posterior segment
pathology
No
Yes
Anterior segment pathology
CVI or DVD
COMA
High ammetropia
CNS pathology
No
Consider 4 options
Nystagmus
Infant with poor vision
FRACP 2016 135
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Systemic Disease & Children’s
Eyes
(This could involve a series of
lectures for several months)
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Systemic Disease & Children’s
Eyes
• Down syndrome (any of the previously
described eye problems)
• Prematurity (retinopathy of prematurity)
• Juvenile chronic arthritis (uveitis)
FRACP 2016 137
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Retinopathy of Prematurity = ROP
• Disorder of retinal angiogenesis
• Seen in some premature infants
– <500 g .. 30%
– 500-749 g .. 10%
– 750-999 g .. 3%
– 1000-1250 g .. <1%
– >1250 g .. “never”
FRACP 2016 138
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International Classification of ROP
(ICROP) 1983 (revised 2005)
• Enable uniform description & collaboration
• Key elements
– Location
– Extent
– Stage
– SeverityFRACP 2016 139
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ROP Location & Extent
FRACP 2016 140
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ROP Stage
FRACP 2016 141
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ROP -Severity
FRACP 2016
Plus
Disease
Pre-Plus Disease
142
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ROP “disaster” = RLF
FRACP 2016 143
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Aetiology of ROP
• Unclear
• Low birth weight
• Gestational age
• Supplementary oxygen
FRACP 2016 144
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Management of ROP
• Screening to identify those at risk of
progressing to retinal detachment
• Laser treatment for “type 1” ROP to
prevent progression
• Long term follow-up to check for sequelae
FRACP 2016 145
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CRYO ROP 1988• RCT
• Threshold = severe stage three for 5
continuous of 8 non-continuous clock
hours in zone 1 or 2 with plus disease
• Conclusion
• Treating ROP of value (!)
• Cryotherapy - 21.8% unfavourable
• No treatment - 43% unfavourable
FRACP 2016 146
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ETROP 2003
• Type 1 ROP– Zone I, any stage ROP with plus disease
– Zone I, stage 3 ROP with or without plus disease
– Zone II, stage 2 or 3 ROP with plus disease
• Type 2 ROP– Zone I, stage 1 or 2 ROP without plus disease
– Zone II, stage 3 ROP without plus disease
FRACP 2016 147
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ROP Treatment
Type 1 (Stage III) ROP – before & after laser treatment
FRACP 2016 148
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RCTs & ROP
• CRYO-ROP (1988) - treatment works
• Light-ROP (1997) - not caused by light
• STOP-ROP (2003) - extra O2 does not turn off ROP
• ET-ROP (2003) - earlier treatment better
• STOP-ROP (2010) - ↑ O2 sats of little help
• BEAT-ROP (2011) - anti-VEGF turns off bad ROP
• BOOST (2013) - aiming for lower target O2 sats
increases mortality & only reduces ROP slightly
FRACP 2016 149
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ROP sequelae
• Refractive errors
• Strabismus
• Amblyopia
• Visual loss if retinal scarring or detachment
FRACP 2016 150
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Juvenile Chronic Arthritis
• Some children with JCA develop anterior
uveitis (iritis)
• Risk of cataract and glaucoma as
complications
• Beware the PANAFY (= Pauciarticular,
ANA positive, Female, Young)FRACP 2016 151
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Juvenile Chronic Arthritis
FRACP 2016 152
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Juvenile Chronic Arthritis
FRACP 2016 153
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Learning Difficulties & Vision
• Little convincing evidence of connection
between vision defects & learning problems
• Parents often try unproven treatments
(burden of guilt)
• Educational approach (with appropriate
psychological testing) of greatest benefit
FRACP 2016 154
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Support Services for Children
with Reduced Vision• Pre-school
– Early childhood educators from Vision Australia
• School age
– Visiting teacher service (EVAC Clinic)
– Vision Australia School
• Vision Australia Low Vision Clinic
– Low vision aides
• Guide Dogs Association
– Mobility & occupational therapy
FRACP 2016 155