Paediatric Ophthalmology Lectures Flashcards
Which key questions form a paediatric ophthalmology history?
Presenting complaint Age of onset, duration Uni/bilateral? Constant/intermittent? Discharge (watery/pus) Pain/photophobia/vision loss Affected contacts
What birth history questions should be asked in paediatric ophthalmology?
Trauma?
Prematurity? (ROP)
C-section?
How can photographs taken by parents aid a paediatric ophthalmology history?
Documenting changes in squint
What are the main causes of ophthalmia neonatorum?
Chlamydia trachomatis
N. gonorrhoeae
S. aureus, Strep pneumoniae, Haemophilus, Pseudomonas
Herpes simplex virus
How does gonococcal neonatal conjunctivitis present? (Note: Same for other bacteria but 2-5 days instead)
1-3d of birth:
Severe purulent discharge, lid oedema, chemosis, keratitis
How does chlamydial neonatal conjunctivitis present?
4-28d of birth:
Mucopurulent discharge, papillae, pre-septal cellulitis
How do you investigate and treat ophthalmia neonatorum?
MC&S: Prewet swab or conjunctival scrapings
Gonococcal: Cefotaxime IM
Chlamydial: Erythromycin
Other: Chloramphenicol (gram +ve) or tobramycin (gram -ve)
What are the signs and symptoms of conjunctivitis?
Irritation (pain if cornea involvement) Conjunctival hyperaemia (max in fornix) Associated discharge
What are the signs of bacterial conjunctivitis?
Bilateral mucopurulent discharge, papillary reaction, ‘glued eyes’, no itching
How is bacterial conjunctivitis treated?
Topical Abx: Chloramphenicol
How is viral conjunctivitis treated?
Infection control, spread prevention
What are the signs and symptoms of allergic conjunctivitis?
Itchy, watery discharge, lid oedema, chemosis, mild papillary hypertrophy,
How is allergic conjunctivitis treated?
Limit allergen exposure
Flare-ups: Cold compress, artificial tears, topical NSAID’s, corticosteroids, antihistamines, mast cell stabilisers
What are the features of vernal keratoconjunctivitis?
80% atopic history, 5-15 years onset
Itchy, thick mucous discharge, cobblestone papillae, shield ulcers, keratitis
How is vernal keratoconjunctivitis treated?
Steroids, subtarsal injection
How does microbial keratitis present?
Painful red eye, mucopurulent discharge, photophobia, blurred vision
Epithelial defect, infiltrate, hypopyon
How is microbial keratitis treated?
Controls ulcer swab
Topical Abx: Ofloxacin
How are corneal abrasions treated?
Fluorescein drops to visualise
Topical anaesthesia, chloramphenicol, oral analgesia, pad
What is blepharitis?
Meibomian gland (produces lipid layer of tears) infection in the lid margin, chalazia may be present
How is blepharitis treated?
Cold compress, lid hygiene
What is the difference between a chalazion and a stye/hordeolum?
Chalazia: Usually non-painful lumps from clogged oil gland deep in eyelid
Styes: Painful lumps near lid margin due to infection
How does herpetic eye disease present and how is it treated?
Epithelial defect (dendritic ulcers seen via fluorescein drops) 3% aciclovir 5x daily, weekly review
What is assessed when investigating a corneal foreign body?
Mechanism and depth of injury, intraocular pressure check
What test is used to assess full thickness corneal laceration?
Seidel’s test via fluorescein drops
How do you treat corneal foreign body?
Remove if trained
Chloramphenicol
What is hyphaema?
Blood in the anterior chamber
What types of ocular chemical injuries can occur?
Acid, alkali, thermal, UV
How are ocular chemical injuries investigated?
Intraocular pressure check, visual acuity, slit-lamp examination Lid eversion (foreign bodies?)
How are ocular chemical injuries treated?
Irrigation (check pH), Abx, cycloplegia, vitamin C
How does juvenile idiopathic arthritis present in the eye?
Anterior uveitis (no symptoms/floaters/less VA) Keratic precipitates, cataract, glaucoma, vitritis, CMO, IOP change, posterior synechiae
What could a hazy cornea indicate in juvenile idiopathic arthritis?
Pankeratopathy, CMO
Vitreous cells in cornea
How is juvenile idiopathic arthritis treated?
Steroids, cycloplegia, methotrexate, anti-TNF agents
What is the main cause of endophthalmitis?
Recent eye surgery
How does endophthalmitis present?
Painful red eye, rapid visual loss, hypopyon, vitritis, hazy cornea
What pathology causes watering eyes and how is it treated?
Nasolacrimal duct blockage
Massage/compress (persistent: syringing/probing)
How does pre-septal cellulitis present and what causes it?
Painful swollen lid, fever, malaise
Staph, strep
How does orbital cellulitis present?
Sinusitis, facial cellulitis, dacryocystitis, dental abscess
Swollen painful lids, proptosis, less eye movements, optic nerve dysfunction
What are the complications of orbital cellulitis?
Meningitis, cavernous sinus thrombosis, orbital/cerebral abscesses
What are the differentials of leucocoria?
Retinoblastoma, cataract, toxocariasis, Coat’s disease, ROP, RD
What is pathogenesis of retinoblastoma?
13q14 deletion: 90% sporadic uni/bilateral primitive photoreceptor cell tumour
How is retinoblastoma treated?
External-beam radiation, plaque radiotherapy, cryotherapy, chemotherapy, enucleation
What features are seen in optic disk swelling?
Ill-defined disk margins, tortuous retinal vessels, cotton wool spots, haemorrhages
No symptoms or nausea /photophobia
How is optic disk swelling investigated?
OCT (drusen?), AF
What can ptosis and congenital cataracts cause?
Amblyopia
How are congenital cataracts treated?
Atropine, patching
In which embryological week does the retina become completely vascularised?
Week 36
What causes retinopathy of prematurity?
Angiogenesis following retinal ischaemia due to incomplete vascularisation
What were the main paediatric amblyopia trials?
ATS (PEDIG), ROTAS, MOTAS
What did ATOM stand for in the ATOM trial?
Atropine for the Treatment Of childhood Myopia
Which were the main ROP trials?
CRYO-ROP, ET-ROP, LIGHT-ROP, STOP-ROP, BEAT-ROP, PHOTO-ROP, HOPE-ROP, ROP1
What were the main paediatric cataract studies?
IATS, IOLu2
What were the results of the IOLu2 study?
Uni/bilateral IOL implant effects on cataract negligible
Glaucoma risk when cohort >4 y/o
What were the main paediatric exotropia studies?
CITS, Newcastle Control Score
What did ATS stand for and how many studies have been published?
Amblyopia Treatment Studies
17 (#18 being reviewed)
How did ATS classify amblyopia according to BCVA?
Mild to moderate: >20/80 in amblyopic eye
Severe: 20/100-20/400 in amblyopic eye
What is occlusion therapy to treat amblyopia?
Patching of the non-amblyopic eye to stimulate the amblyopic eye
What is penalisation therapy to treat amblyopia?
Atropine drops to blur vision in non-amblyopic eye to stimulate the amblyopic eye
What did the “Prescribed patching regimens for severe amblyopia” study reveal?
6-hour daily patching increased VA as much as full-time patching
What were the daily patching recommendations following the severe amblyopia study?
Mild: 2 hours daily
Moderate: 4 hours daily
Severe: 6 hours daily
What were the treatment criteria for the “Atropine vs patching for moderate amblyopia” study?
Patching group: >6-hours daily
Atropine group: 1 drop daily
What were the results of the “Atropine vs patching for moderate amblyopia” study?
Mean VA improvement of 3 lines (20/60 to 20/30)
Daily vs weekend atropine: Similar results after 17 weeks
When is the critical period for amblyopia treatment?
First 7 years of life
What amblyopia treatment may improve vision in those aged 7-12?
2-6 hours daily patching
Near activities, atropine
What amblyopia treatment may improve vision in those aged 13-17?
2-6 hours daily patching
Near activities
How effective are 2 hours daily patching and near activities to treat amblyopia in those aged 3-7?
Not at all according to the respective trial
What was the inclusion criteria for the refractive correction anisometropic amblyopia study?
No prior treatment
VA 20/40-20/250
Occlusion + spectacles
When is the glasses adaptation period?
16-18 weeks
What were the results of the refractive correction anisometropic amblyopia study?
77% >2 lines VA gain
60% >3 lines VA gain
Glasses alone work not occlusion therapy
What conclusions could be drawn from the amblyopia studies?
Moderate amblyopia: Occlusion vs atropine, 2 hrs vs 6 hrs daily patching, weekend vs daily patching all equally effective
Severe amblyopia: Part-time vs full-time patching equally effective
What studies examined amblyopia occlusion treatment compliance rates? How so? What were the results?
MOTAS, ROTAS
Occlusion dose monitor
<50% compliance rate, parents respond to child’s discomfort
What is the global incidence of RD in >6D myopia?
3%
What did ATOM1 investigate?
Effect of 1 daily 1% atropine drop in 1 eye over 2 years to treat myopia
What were the results of the ATOM1 study?
77% reduction in myopic progression
Increased myopia progression following treatment cessation
What did ATOM2 investigate?
Effect of 0.5% vs 0.1% vs 0.01% atropine over 12 months to treat myopia
What were the results of the ATOM2 study?
All doses: Similar effects
- 5%: Increased post-cessation myopia progression
- 01%: Less pupil dilation and accommodation loss
What was done in the 5-year ATOM2 extension trial?
Those with post-cessation myopia progression were restarted on atropine
What were the results of the 5-year ATOM2 extension trial?
Myopia progression and axial elongation change lowest in 0.01% atropine group
What does CRYO-ROP stand for? What were the results of this study?
Cryotherapy for ROP
Introduced threshold ROP in staging
50% had visual loss and RD despite treatment
What does ET-ROP stand for? What were the results of this study?
Early treatment for ROP
Introduced pre-threshold ROP
Poor visual and structural outcomes reduced by 5.5% and 6.6% respectively
What do HOPE-ROP and STOP-ROP stand for? What were the results of these studies?
High O2 percentage in ROP
Supplementary O2 therapy in ROP
Inconclusive results
What does LIGHT-ROP stand for? What were the results of this study?
Ambient light in ROP
No effect on ROP progression
What did the PHOTO-ROP study investigate?
Digital fundus imaging vs indirect ophthalmoscopy in ROP screening
What were the results of the PHOTO-ROP study?
Digital fundus imaging sensitivity, specificity, accuracy depends on image quality
Immediate review <24 hours recommended
What did the BEAT-ROP study investigate?
Bevacizumab vs laser to treat stage 3+ ROP
What were the results of the BEAT-ROP study?
ROP recurrence: 4% with Avastin, 22% with laser
Zone I/II ds benefit with Avastin
Which was the lowest effective Avastin dose in treating ROP?
0.031mg
What is the inheritance pattern of metabolic disorders affecting the eye?
Generally autosomal recessive
X-linked recessive: Fabry’s disease, ornithine transcarbamylase deficiency
Which lysosomal storage disorders affect the eye?
Fabry’s disease Cystinosis Mucopolysaccharidoses Neuronal ceroid lipofuscinosis Neumann-Pick disease Gaucher’s type 3
Which metabolic disorders have unique eye findings?
Fabry’s disease
Mucopolysaccharidoses
Cystinosis
Which metabolic disorders have unique eye findings?
Fabry’s disease
Mucopolysaccharidoses
Cystinosis
In which metabolic disorders are the eyes affected late in the disease course?
Mucopolysaccharidoses Propionic acidaemia LCHAD deficiency Refsum's Homocystinuria
In which metabolic disorders are the eyes affected late in the disease course?
Propionic acidaemia
LCHAD deficiency
Which metabolic disorders have no effect on vision?
Fabry’s disease
Wilson’s disease
Which metabolic disorders present with vision loss?
Batten’s disease
Gyrate atrophy
Which metabolic disorders affect eye movement?
Gauchers type 3
Niemann-Pick type C
Which metabolic disorder presents with transient vision loss?
Ornithine transcarbamylase deficiency
What causes Fabry’s disease?
α-galactosidase A deficiency
What are the systemic signs of Fabry’s disease?
Acroparesthesia
Angiokeratoma corporis diffusum
Neuropathy, renal failure
Hypertrophic cardiomyopathy, stroke
What are the ocular manifestations of Fabry’s disease?
Corneal verticillata
Conjunctival + retinal vessel tortuosity
Retinal vascular occlusion, cataracts
What term is used to describe corneal verticillata? What causes them? Do they affect vision?
Vortex keratopathy (‘whorls’)
Fabry’s disease, amiodarone
No effect on vision
What fundoscopy signs are seen in Fabry’s disease? What causes these?
Venous dilation, arterial narrowing, AV-nicking
Cytoplasmic inclusions in endothelial cells and pericytes
What is the pathogenesis of corneal verticillata? How are they visualised? How are amiodarone deposits different?
Corneal epithelial basal layer intracellular inclusions
Slit-lamp, confocal scanning laser microscopy
Amiodarone deposits more reflective, different size
What conjunctival signs are seen in Fabry’s disease?
Venous dilation/tortuosity
Sludged blood, microaneurysms
Chronic chemosis
Lymphangiectasia
How do cataracts appear in Fabry’s disease?
Bilateral wedge shape
Along suture lines from posterior pole (Spoke-like)
What ocular symptoms occur following strokes in Fabry’s disease?
Homonymous hemianopia (37%)
How is Fabry’s disease treated?
ERT: Fabrazyme, replagal
What causes cystinosis? What is the pathophysiology?
CTNS gene mutation (cystinosin)
Cystine buildup in kidneys, bone marrow, pancreas, muscles, brain and eye
How does cystinosis present systemically? Which syndrome is it linked to?
Renal failure, anaemia, short stature
Fanconi’s syndrome
How does cystinosis present in the eye?
Crystals: Cornea, conjunctiva, retina (later erosions and NV)
Photophobia
How is cystinosis treated?
Topical cysteamine (0.44%)
What are the main types of mucopolysaccharidoses?
I: Hurler, Hurler-Scheie, Scheie
II: Hunter, IV: Morquio
VI: Maroteaux-Lamy
Which bodily systems do MPS affect?
Skeletal
Cardiovascular
Neurological
Eyes
Which MPS types involve corneal clouding, photophobia and exposure keratopathy? How are these treated?
I, IV, VI, VII Corneal transplantation (PK, DALK)
What anterior segment changes occur in MPS?
Thicker peripheral cornea
Variable central cornea thickness
Altered corneal hysteresis
Thicker iris, narrower angle
What optic nerve changes occur in MPS?
Thicker sclera, greater optic nerve diameter, risk of high ICP damage Optic atrophy (severe visual loss)
How does glaucoma present in MPS?
Raised IOP, optic disc GAG deposition, corneal opacity, poor dilation, visual fields affected
Retinopathy occurs in which types of MPS? How does it present?
I, II, III
Nyctalopia, peripheral field loss
II: Choroidal folds, maculopathy, RD
Which genes are affected in neuronal ceroid lipofuscinosis?
CLN1-10
CLN10: Congenital, 11p15, Cathepsin D
CLN1: Infantile, 1p32, Palmitoyl thioesterase
CLN3: Batten’s, 16p12
What is gyrate atrophy? What causes it?
Amino acid metabolism disorder
Ornithine aminotransferase deficiency
How does gyrate atrophy present?
Progressive vision loss, myopia
Cataracts, chorio-retinal degeneration
What lifestyle factor can slow gyrate atrophy progression?
Arginine restricted diet
What causes propionic and methylmalonic acidaemias?
Branched chain amino acid catabolism defects
How do propionic/methylmalonic acidaemias present?
Vomiting, drowsiness, acidosis, hyperammonaemia, late severe visual loss (optic neuropathy)
How are propionic/methylmalonic acidaemias treated?
Dietary protein restriction
Which protein is inadequately metabolised in homocystinuria? Where is this condition more prevalent?
Methionine
Ireland (1 in 52000)
How does homocystinuria present systemically?
Development delay, seizures, PE, DVT
Tall, long limbs, fair, blue iris
How does homocystinuria present in the eyes?
90%: Ectopia lentis
Myopia, cataract, RD, RAO, glaucoma, anaesthesia risky
What is galactosaemia? What causes it?
Carbohydrate metabolism disorder
Galactokinase deficiency
How does galactosaemia present? How can it be stabilised?
Jaundice, poor feeding, oil-droplet cataract (progress to lamellar)
Hepatosplenomegaly
Dietary control
Which sterol metabolism disorders affect the eye?
Cerebrotendinous xanthomatosis
Smith-Lemli-Opitz syndrome
What causes cerebrotendinous xanthomatosis? How does it present?
Sterol 27-hydroxylase gene mutation (CYP27A1)
Diarrhoea, ataxia, seizures
Cataracts, optic neuropathy
Tendon xanthomas, atherosclerosis
How is cerebrotendinous xanthomatosis treated?
Chenodeoxycholic acid, statins
What causes Smith-Lemli-Opitz syndrome? How does it present?
Raised 7-dehydrocholesterol
Microcephaly, polydactyly, genital/heart/gut malformations
Cataract, ptosis, strabismus, optic atrophy
Which process involves LCHAD?
Mitochondrial fatty acid beta-oxidation
How does LCHAD deficiency present?
Hypoglycaemia, hypotonia, seizures, cholestatic liver
Chorioretinal breakdown, myopia
Visual loss, photophobia, nyctalopia
What types of Niemann-Pick disease are there? What causes them?
A, B: Sphingomyelinase deficiency
C, D: Brain sphingolipid buildup
Which epidemiological group is most affected by Niemann-Pick disease types A and B?
Ashkenazi Jewish population
How do Niemann-Pick disease types A and B present?
A: Neurological degeneration
B: Hepatosplenomegaly
Cherry red spot, pre-orbital fullness, macular granular deposits
How does Niemann-Pick disease type C present?
NPC 1 or 2 gene mutation
Liver disease, splenomegaly, seizures, ataxia, dystonia
Vertical supranuclear gaze palsy
How is Niemann-Pick disease type C treated?
Miglustat
What causes Gaucher’s disease type 3?
Glucocerebrosidase gene mutation
How does Gaucher’s disease type 3 present? How is it treated?
Oculomotor apraxia (defective horizontal saccades), intermittent strabismus, vertical gaze palsies
Failure to thrive, hepatosplenomegaly
ERT: Recombinant glucocerebrosidase
What is ornithine transcarbamylase deficiency?
How does it present?
Urea cycle disorder
Bilateral vision loss, encephalopathy, headaches
Sluggish pupils, nystagmus, flat VEP’s
What are the UK risk factors for Retinopathy of Prematurity?
<32 weeks gestational age, <1501g birth weight, supplemental O2, M>F, Caucasians, mechanical ventilation
Which aggressive form of ROP progresses rapidly?
AP-ROP
What are the UK risk factors for Retinopathy of Prematurity?
<32 weeks gestational age
<1501g birth weight
What percentage of premature babies are affected by ROP?
20%
How is ROP detected?
Clinical examination
No signs/symptoms
What retinal development occurs at 16 weeks gestation?
Blood vessels grow out from the optic nerve
Which cells form retinal blood vessels? In which gestational weeks do they grow then form vessels?
Spindle cells
Grow: 16 weeks
Form vessels: 29 weeks
What environmental factors affect the immature retina?
Systemic O2 levels
VEGF levels
Which cells form retinal blood vessels? In which gestational weeks do they form then develop?
Spindle cells
Grow at 16 weeks
Form vessels at 29 weeks
What term is used for the state of the retina in early foetal development?
Physiological hypoxic state
What promotes early foetal vasculogenesis
Increased retinal thickeness thus increased local metabolic demand
What is the pathophysiology of ROP?
Premature neonate exposed to higher O2 levels, incomplete retinal vessel development, scarring, RD/blindness
What is the pathophysiology of ROP?
Premature neonate exposed to higher O2 levels, incomplete retinal vessel development, scarring, RD/blindness
What factors cause abnormal retinal vessel development?
Low IGF-1 (O2)
High VEGF (O2)
Genetics
Poor early weight gain
How does supplemental O2 affect ROP progression?
Retinal vasoconstriction
Vascular closure, endothelial loss
Proliferating endothelial nodules (popcorn) canalise through ILM
Which genes are linked to ROP?
FEVR similar phenotype Norrie disease (NDP) gene
How is ROP classified?
Location (Zones 1-3), extent (clock hours), severity (0-5), plus disease, AP-ROP
How are zones 1-3 defined in ROP?
1: 2x optic disc diameter
2: Circumferential from nasal aura
3: Remainder of temporal region
How is stage 0 defined in ROP?
Immature retina
How is stage 1 defined in ROP?
Demarcation line of vascularisation
How is stage 2 defined in ROP?
Fibrovascular ridge (late: popcorn)
When does a double demarcation line form?
Stage 2/3 ROP regressing: Retinal vascularisation passes the ridge then recurs
When does a double demarcation line form?
Stage 2/3 ROP regresses: Retinal vascularisation passes the ridge then recurs
How are stages 4a and 4b defined in ROP?
Partial retinal detachment (4a: Fovea-sparing, 4b: Non-sparing)
How is stage 5 defined in ROP?
Complete retinal detachment (funnel-shaped), retrolental fibroplasia
What is seen in Plus disease in ROP?
Posterior retinal vessel abnormal dilatation and tortuosity, iris rigidity
How is Pre-Plus disease defined in ROP?
Insufficiently severe Plus disease in 2+ quadrants
What causes Plus disease in ROP?
Periphery shunting through ridge tissue
What vascular sign of aggressive ROP normally disappears after birth?
Tunica vasculosa lentis
Capillary network over posterior/lateral lens
What stage of ROP warrants immediate treatment?
Stage 3 with 2+ quadrants of Plus disease
What is seen in AP-ROP? What can it cause?
No demarcation line, zone 1, can lead to RD
What are the stages of prematurity in ROP screening? When must patients first be seen for each?
<32 weeks PMA: Term
27-32 weeks: 30-31 weeks PMA
<27 weeks (extreme): 32-35 weeks PMA
How is ROP treated?
Mild ROP: Resolves itself
Laser, anti-VEGF
RD surgery
How is ROP treated?
Mild ROP: Resolves itself
Laser, anti-VEGF
What are the post laser sequelae for ROP?
Myopia, strabismus, amblyopia, glaucoma, retinal vessel dragging
What forms of RD surgery are done for ROP?
Vitrectomy (oil/gas or scleral buckle)
Endoscopic VR surgery
When can imaging be useful in paediatric ophthalmology?
Documenting, diagnosis, telemedicine, education, research, teaching, screening, EUA alternative
What are the imaging challenges in paediatric ophthalmology?
Cooperation, attention, fatigue, positioning, photophobia, disabilities
How are imaging challenges in paediatric ophthalmology overcome?
Quick, mobile devices, adjustable light intensity, good communication, parental support, prioritise, positioning. EUA
When is external photography useful in paediatric ophthalmology?
Strabismus surgery outcome, disease progression, treatment analysis
When is external photography useful in paediatric ophthalmology?
Recording surgical outcomes (strabismus)
Disease progression, treatment analysis
What are the benefits of external photography in paediatric ophthalmology?
Readily available, easy, fast, cheap, non-contact, no cooperation needed, familiar, low light intensity
What are the drawbacks of external photography in paediatric ophthalmology?
Flash causes shadow rings, limited, low magnification
When is slit lamp photography used in paediatric ophthalmology?
Magnified, detailed or slit beam anterior segment images (cystinosis, MPS)
What are the benefits of slit lamp photography in paediatric ophthalmology?
Video: Movement tolerated, recorded (Siedel’s test)
Flash: Brief, moderate light intensity, sharp, less movement artefact
What are the drawbacks of slit lamp photography in paediatric ophthalmology?
Video: Intense light
Flash: Expensive, training, good cooperation needed
How is corneal tomography done in paediatric ophthalmology? Which principle is used?
Placido-based systems (Pentacam)
Scheimpflug
What does Pentacam measure?
Corneal thickness (pachymetry)
When is Pentacam useful in paediatric ophthalmology?
Keratoconus, corneal/lens thickness, anterior chamber depth, some refractive surgeries
What are the benefits and drawbacks of Pentacam use?
Pros: Fast, easy, non-contact, low light intensity
Cons: Cooperation needed
What system is used for handheld digital fundus cameras?
RetCam
How are digital fundus images captured?
White light ring on fundus, reflected light captured on charge coupled device
What types of handheld digital fundus imaging are there?
Direct contact (video) Anterior segment (goniophotography)
What ocular structure does goniophotography highlight?
Iridocorneal angle
When is digital fundus imaging used?
Documenting examination findings
Telemedicine
What are the benefits and drawbacks of digital fundus imaging?
Pros: Both A/P segments seen, awake
Cons: Expensive, difficult to use, slow, cooperation needed
How are anterior segment OCT images formed? What domains may be used?
Interferometry
Time domain, Fourier/spectral domain (swept source)
When is anterior segment OCT used in paediatric ophthalmology?
Corneal issues, placing IOL’s/glaucoma draining tubes, corneal thickness, anterior chamber angle check
What are the benefits and drawbacks of anterior segment OCT in paediatric ophthalmology?
Pros: Non-contact, fast, easy, light tolerated, flexible, eye tracking functions
Cons: Cooperation needed, expensive
What are the forms of posterior segment imaging?
OCT, OPTOS/SLO, FFA, B-scan, RetCam
What does OPTOS allow in terms of imaging?
Ultra-wide fundus imaging: 200 degrees field of view
When is OPTOS used in paediatric ophthalmology?
Complex posterior uveitis, peripheral retinal disease
What are the benefits and drawbacks of OPTOS in paediatric ophthalmology?
Pros: Non-contact, fast, undilated, high resolution
Cons: Cooperation needed, noise, not true colour
How is fundus fluorescein angiography carried out?
Rapid fundus images following IV sodium fluorescein using fundus camera or SLO
When is fundus fluorescien angiography useful in paediatric ophthalmology?
Assessing retina/choroid vasculature (Coat’s disease, CNV, uveitis)
What risks are associated with fundus fluorescein angiography?
Anaphylaxis, injection risks
Where is light focused in emmetropic eyes?
Directly onto the retina
Where is light focused in hypermetropic eyes?
Behind the retina
Where is light focused in myopic eyes?
In front of the retina
Which spherical lenses correct myopia?
Concave (minus) lenses
Which spherical lenses correct hypermetropia?
Convex (plus) lenses
What is astigmatism?
Deviation from spherical curvature, rays do not meet at common focus, distorted vision, cylindrical lenses needed
What occurs in accommodation?
Crystalline lens flat when distant focus, thickens for near objects
What is presbyopia?
Accommodation loss with age
What is aphakia?
Absence of the eye’s crystalline lens
What % of neonates and 6-8y/o’s have spherical refraction of 2 and 1 respectively?
22%
35%
What refraction type do most neonates have?
Hypermetropic (<3.00), decreases with age, 17mm
How is a child’s prescription checked objectively?
Trial frame worn, room lights dimmed, distance fixation target (Thompson), retinoscopy determines lens power
How is a child’s prescription checked subjectively? Which minimum age does it work best with?
Offer +/- lenses (push the +): Cross cyl to check astigmatic axis and power, 7+ y/o
When is cycloplegic refraction needed?
For those whom it is difficult to obtain accurate subjective measurements from
What agent is used for cycloplegic refraction?
Cyclopentolate 1%
What are the benefits and drawbacks of cycloplegic refraction?
Pros: No accommodation,
easy cooperation
Cons: Invasive, acidic irritation, blurred vision for hours
What are the benefits of refractive correction?
Preventing amblyopia/strabismus
Providing clear, binocular vision
When is refractive correction prescribed for children of any age?
Extreme refractive errors
Strabismus/amblyopia
Anisometropia
How is insignificant refractive error managed above and below 2 years old?
<2y/o: Monitor only
>2y/o: Monitor if refractive error not decreasing
How is significant refractive error defined in those >2 years old?
> +3.00D hypermetropia (>+2.00 if no binocular issues), +2.50D astigmatism
What can cause paediatric aphakia?
Congenital cataract, trauma, lens subluxation (Marfan’s, ectopia lentis)
What is the corneal radius and axial length of eyes on average at birth?
Corneal radius: 6.9mm
Axial length: 17mm (21mm at 6/12 months)
What prescription are aphakic paediatric spectacles?
+25DS to +15DS in 1st year of life
What are the benefits and drawbacks of aphakic paediatric spectacles?
Pros: No infection risk, well-tolerated
Cons: Challenging if unilateral, expensive, easily break, poor cosmesis
What are the benefits and drawbacks of paediatric contact lenses?
Pros: Light, easy upon insertion better unilaterally, good cosmesis
Cons: Infection/abrasion risk, difficulty inserting, easily taken out
Which paediatric aphakic lenses are currently in use?
Silicone hydrogel lenses (Ultravision)
What are benefits and drawbacks of silicone hydrogel paediatric contact lenses?
Pros: Flexible, stable, less corneal hypoxia risk
Cons: Red/sticky eyes, handling, lens loss, de-centering, compliance
What is the aftercare involved with paediatric contact lenses?
Addressing issues, compliance, lens fit/centration, over-refraction, gross corneal examination (Burton or slit-lamp)
What refractive correction is prescribed for aphakic infants?
Until mobile/toddling: +2.00D overcorrection (CL’s/glasses)
Toddlers: +1.00D overcorrection
Preschool: Distance correction with CL’s/bifocals, add +3.00D for near work
How many individuals worldwide suffer from childhood blindness? How many in the UK aged under 18?
1.4 million globally
UK visual loss <18y/o: 28000
What is included with Low Vision Assessment Clinic appointment letters?
Parent/guardian questionnaire covering education, school, support, QTVI hours, font size, etc.
What is involved in Low Vision Assessment histories?
Who supports child, health concerns, mobility/orientation, TV/reading/playing issues, interaction with others
What low vision aids are available in schools?
Larger font, sit at front of class, sloping boards, contrast/lighting, magnifiers (Fresnel)
What does QTVI stand for?
Qualified Teacher of the Visualy Impaired
How is distance visual acuity assessed?
Monocular (worse eye first) then binocularly start at easier distance
Appropriate test: LogMAR/Snellen/Lea symbols
How is near visual acuity assessed?
Binocular: Symbols/words/sentences with M or N notation
Why is assessing only visual acuity insufficient? What visual factors should also be considered?
Determining effect on daily tasks difficult
Contrast sensitivity, colour vision, visual fields
How are contrast sensitivity and colour vision tested in children?
Contrast: Hiding Heidi
Colour: Panel 16 Quantitative Colour Vision test (adult: D15)
Which conditions can reduce contrast sensitivity?
Visual pathway issues, cataract, glaucoma, optic atrophy, macular/retinal dystrophies, amblyopia
Which techniques are used for visual field tests? Which strategies are used for central and peripheral scotomas
Goldmann techniques
Central: Optimal reading
Peripheral: Enhancement
Which near vision/reading and distance magnifiers are available?
Near: Bar/Brightfield, handheld, stand, illuminated
Distance: Binoculars
What does P-EVES stand for in terms of low vision aids?
Portable Electronic Vision Enhancement
How is strabismus defined? What impairment may it highlight?
Misalignment of the eyes, visual axes are not simultaneously directed at the object in one or all directions
Loss of binocular vision
What are the Worth’s classification grades of binocular vision?
I: Simultaneous macular perception, II: Fusion, III: Stereopsis
What are the horizontal forms of ocular deviation?
Esotropia (inward), exotropia (outward)
What are the vertical forms of ocular deviation?
Hypertropia (upward), hypotropia (downward)
What affects the extent of misalignment in comitant squints?
Accommodation
What factors determine squint classification?
Deviation direction, duration, comitancy, refraction, accommodative effort, fixation distance, strabismus surgery, visual status
What ocular consequences can squints cause?
Diplopia, suppression, amblyopia, psycho-social issues (e.g. bullying)
What occurs in suppression due to squint?
Brain ignores image from deviating eye, common in <7y/o’s
How is amblyopia defined?
Reduced visual acuity in the absence of physical eye abnormalities
How is amblyopia treated?
Patching good eye, atropine, near objects
What is the difference between a ‘tropia’ and a ‘phoria’?
A ‘tropia’ occurs when both eyes are uncovered, a ‘phoria’ occurs for covered eye(s)
What is nystagmus?
Involuntary movement of the eyes
What types of nystagmus are there?
Manifest (always)
Latent (covered)
Manifest-latent
How should manifest-latent nystagmus be treated?
Atropine
When does infantile esotropia occur? At which angle and refraction?
<6 months old
Moderate angle
Normal refraction
What is cross fixation?
Fixation between eyes switches when object moves between L and R visual fields
How are cover tests carried out?
Cover fixing eye, other eye visual axis straightens
If there is a right hypertropia what tropia is usually seen in the left eye?
Hypotropia?
What is Dissociated Vertical Deviation? Which tropia is most common in this?
When only one eye moves during a cover test in vertical squints
95% hypertropia
What are the two types of accommodative esotropia?
Refractive
Non-refractive
When do children develop the ability to accommodate?
> 1 years old
Which other tropia is refractive accommodative esotropia linked with? How is it treated?
Hypermetropia
Spectacles (bifocals if convergence excess)
What eye movement issue is seen in non-refractive accommodative esotropia?
Convergence excess (high AC/A ratio)
When does exotropia usually present? What refraction and angle is seen?
Adulthood
Normal refraction
Large angle
What affects intermittent exotropia?
Distance, concentration, bright light (loss of fusion)
How are macular stress tests carried out?
Shine bright light in patient’s eye then test visual acuity
When does sensory exotropia occur?
Drops in visual acuity (e.g. cataract)
In paralytic strabismus, what ocular issues do CN III, IV and VI palsies cause?
III: Ptosis, mydriasis, exotropia, hypotropia
IV: Hypertropia
VI: Esotropia
What is another term for incomitant esotropia?
Brown’s syndrome
What can cause incomitant esotropia?
CN VI palsy, Duanes syndrome, medial orbital floor fracture, myasthenia gravis, myositis, thyroid myopathy
What is Duane’s syndrome
Abnormal extraocular muscle co-contraction
How is incomitant esotropia managed?
Examination, refraction, ocular deviation stability, surgery (medial recti), 2-3 botox injections
Which are the key laws of eye movement?
Sherrington’s (reciprocal innervation)
Hering’s (equal innervation)
What tests are carried out during strabismus surgery?
Forced duction/resistance test under local or general anaesthesia for passive eye movement
What is the manoeuvre which tests CN VI function? How is it carried out?
Doll’s head manoeuvre
Move head to one side, eye should remain fixed
How is hypermetropic esotropia treated?
Spectacles, variable patching
What are the terms used for pathological and non-pathological DNA variants?
Pathological: Mutation
Non-pathological: Polymorphism
How are DNA variants scaled?
Benign, uncertain, pathogenic
What types of DNA changes are there?
Substitutions (SNP’s)
Insertions/deletions
Splice site changes
Structural/chromosomal
Which inheritance types involve a single gene or multiple components?
Mendelian
Multifactorial
What are the 3 main types of Mendelian inheritance?
Autosomal
X-linked
Mitochondrial
Which tables are used to calculate inheritance patterns?
Punnett squares
What are the types of autosomal inheritance? How many alleles can lead to disease and what are the inheritance chances for each?
Dominant: 1 allele needed, 50% chance
Recessive: Both alleles needed, 25% chance
In X-linked inheritance which sex displays the disease phenotype?
Males
X-linked recessive case: Affected dad, unaffected mum. What are the son/daughter phenotypes?
Unaffected sons
Carrier daughters
X-linked recessive case: Unaffected dad, carrier mum. What are the son/daughter phenotypes?
50% affected sons
50% carrier daughters
Mitchondrial inheritance is from which parent? Which sex does it affect?
Always from mother
Both sexes affected
What is penetrance?
The extent to which those with the disease genotype express the phenotype
What is consanguinity? What risk to offspring is there? What inheritance pattern is it linked with?
Parents being related as second cousins or closer, genetic mutation risk, autosomal recessive
Which inheritance pattern is suggested by 1 parent affected, 50% offspring affected?
Autosomal dominant
Which inheritance pattern is suggested by unaffected parents, rarely affected offspring?
Autosomal recessive
Which inheritance pattern is suggested by severely affected males, no male-to-male transmission?
X-linked recessive
Which inheritance pattern is suggested by no male-to-male transmission, affected mothers producing affected/carrier offspring?
Mitochondrial
What are the typical inheritance patterns of simplex or sporadic cases?
Usually autosomal recessive, dominant if less family history or de novo, males: X-linked?
What % of childhood visual impairment is accounted for by inherited eye disease?
33%
What types of inherited eye disease are seen?
Structural globe (6%), anterior segment (11%), retinal (14%), albinism (4%)
Which 3 inherited structural globe abnormalities are seen in the eye?
Anophthalmia
Microphthalmia
Coloboma
What horizontal corneal diameter indicates microphthalmia? How is it investigated?
<1cm
Ultrasound
What is a coloboma? What causes it?
Absence of an ocular tissue in the eye
Optic fissure non-closure in week 6 of development
What is investigated in a MAC (micro/anophthalmia/coloboma) assessment?
Corneal diameter
USS, CT/MRI
Cryptophthalmia (fused eyelids)
What are 6 anterior segment developmental abnormalities?
Posterior embryotoxon Axenfield-Rieger syndrome Peter’s anomaly Aniridia Paediatric glaucoma Congenital cataracts
What abnormalities often occur alongside iris malformation?
Dental, navel abnormalities
What causes posterior embryotoxon?
Descemet’s membrane ends anteriorly (10-15%)
What makes up Axenfeld-Rieger syndrome?
Axenfeld anomaly: Anterior iris strands
Rieger anomaly: Iris hypoplasia
What is Peter’s anomaly?
Central corneal opacity, irido/lenticulocorneal adhesions
What are the features of aniridia?
Iris/fovea hypoplasia, nystagmus, peripheral corneal opacity
Which tumour is linked to aniridia? How is it investigated?
Wilm’s tumour
Abdominal ultrasound
What causes paediatric glaucoma?
Primary: Trabeculodysgenesis
Secondary: Post-cataract surgery
What features are seen in paediatric glaucoma?
Lacrimation, blepharospasm, photophobia
Corneal opacities
What % of congenital cataracts are bilateral and isolated?
66% bilateral, 55% isolated
What commonly causes unilateral congenital cataracts?
Hyperplastic primary vitreous
When are congenital cataracts referred?
Infection, biochemical or metabolic disorders
What cause of congenital cataracts warrants genetic testing?
Cancer (70% diagnosis if bilateral)
What congenital cataracts occur in the lens of the eye?
Nuclear (yellow/brown), lamellar/zonular
external to lens nucleus
What type of cataract occurs in the posterior lens? What can it cause? How is it treated?
Polar cataract
Amblyopia risk
Vitreo-retinal surgery
What causes oil-droplet cataracts?
Galactosaemia
How do cortical cataracts appear?
White wedge opacities extending spoke-like from lens periphery to centre
Which structures do inherited retinal diseases often affect? What are the two main types?
Rods, cones, RPE
Stationary (dysfunction)
Progressive (dystrophy)
How do stationary and progressive inherited retinal disorders differ in onset, fundus and extraocular appearance?
Stationary: Congenital, normal fundus, rarely extraocular
Progressive: Variable age, abnormal fundus, some extraocular
What is affected in stationary cone>rod disorders? What condition does it cause?
Colour vision
Achromatopsia
What are the main progressive inherited retinal disorders?
Stargardt disease (AR)
Retinitis pigmentosa
Leber’s congenital amaurosis, SECORD, Best disease, gyrate atrophy
How does Stargardt disease present?
Bullseye appearance around macula, hyper-AF flecks, VA drop
How does Stargardt disease present?
Bullseye appearance around macula, hyperAF flecks, decreased VA
What is retinitis pigmentosa? How does it present?
Rod-cone dystrophy, peripheral RPE dysfunction
Early life nyctalopia
In which inherited retinal disorders are both rods and cones affected? How do they present?
LCA, SECORD, Best disease, gyrate atrophy
Severe VA drop, nystagmus, initial normal fundus
What is albinism?
Non-degenerative disorder of melanin production/transport
How does albinism present in the eye?
Nystagmus, VA drop, iris/retina hypopigmentation, foveal hypoplasia
In which day of gestation does eye development begin? By which week are the main structures formed?
Day 22
Week 5
By which week of gestation are precursors of retinal cells present and final ocular structures formed?
Week 8
Which ocular structures are formed in month 4 of gestation?
Retinal vessels
Iris, ciliary body
Canal of Schlemm
From months 5-8 of gestation what ocular developments occur?
5: Eyelids separate
6: Nasolacrimal duct forms
7: Optic nerve myelination
8: Anterior chamber forms
Which years are described as the critical period of vision maturation?
5-7 years old
Which years are described as the critical period of vision maturation?
5-7 years
By which age can pupils react to light?
From birth
By what age can pupils react to light?
From birth
By 6 months old how developed is light sensitivity compared to adult levels? By which age is it fully developed?
2/3rd of adult levels
12-14 years old
By which age ranges is central vision good enough to (a.) react to faces, (b.) distinguish objects, (c.) shapes, (d.) drawn images?
(a. ) 4-6 months old
(b. ) 2-3 months old
(c. ) 7-10 months old
(d. ) 2-3 years old
When does colour perception begin and then fully develop? Which colours are recognised first?
2-6 months old
4-5 years old
Red, blue then green
How much narrower is field of view at pre-school age than adulthood? By which age is at adult levels?
10%
School age
How much larger are blind spots at school age than adulthood from 1m away?
2-3cm larger
Which is the last visual function to develop? What does it allow perception of?
Binocular vision
Allows 3D perception
At which ages are (a.) 2D, (b.) depth through touch, (c.) direction, (d.) distance, (e.) stereopsis perceived?
(a. ) 2 months old
(b. ) 3 months old
(c. ) 4 months old (grasp reflex)
(d. ) 6 months old (crawling)
(e. ) 2-7 years old
What are the 3 requirements for stereopsis (ability to see in 3D)?
Simultaneous perception
Sensory fusion
Motor fusion
What stereopsis tests are there?
Wirt (Titmus)
Lang Stereo Test
Frisby
TNO
How might a child’s 3D vision not develop?
Squint before 6 months old, eyes cannot straight
When is the critical age range to test children’s vision?
Birth-7.5 years old
How would you test visual acuity in babies/infants?
Preferential looking
Fixing and following (<1 month)
Objection to occlusion (>3 months)
Picking up fine objects (>6 months)
How is fixing and following tested?
Bright light/toy, 33-50cm away, neither or 1 eye occluded
What are the main preferential looking tests used to test visual acuity in babies/infants?
Keeler
Teller (1974)
Cardiff (Woodhouse, 1994)
What is observed in fixing and following?
Position, persistence, steadiness, speed
Which preferential looking tests involves black and white stripes on (a.) circular, (b.) square grating patterns?
(a. ) Keeler acuity cards
(b. ) Teller acuity cards
Which preferential looking test involves vanishing optotypes on grey cards tested from 50cm or 1m away?
Cardiff acuity cards
What are the benefits of preferential looking tests and Cardiff cards?
Detects gross amblyopia
Monitor treatment progress for e.g. cataracts, strabismus
What are the limitations of preferential looking tests and Cardiff cards?
Overestimates vision, interest/fatigue/looking speed vary, guessing (repeating helps), observer bias
How do you test fine stimulus response in babies?
Hundreds and thousands test
What is the Kay picture test (1983)?
Visual acuity test for those aged 2-3, 3-4 objects per page at each acuity level from 6m away
How would you test visual acuity in children >2 years old?
Kay picture test
Cardiff acuity cards
How would you test visual acuity in children >3/4 years old?
Kay picture test
Sheridan-Gardiner test
LogMAR
Keeler logMAR
Which visual acuity test is aimed at amblyopic children?
Keeler logMAR
Which visual acuity test for those aged 2-5 involves matching single optotypes from 3m or 6m away?
HOVT or Sheridan-Gardiner test
Which variant of the Sheridan-Gardiner test uses multiple optotypes?
Sonksen-Silver logMAR test
How would you test visual acuity in children >5 years old?
Snellen chart
What are the test age ranges for (a.) fixing and following, (b.) preferential looking, (c.) Cardiff cards?
(a. ) 2-3 months old
(b. ) 2 months-1 year old
(c. ) 1-2.5 years old
What are the test age ranges for (a.) Crowded Kays, (b.) Keeler LogMAR (crowded), (c.) LogMAR/Snellen’s?
(a. ) 2.5-3.5/4 years old
(b. ) 4-5/6 years old
(c. ) >5-6 years old
What shoud be considered in suspected non-accidental head injuries?
Not necessarily abuse?
Medicolegal issues
Child protection
What are the most common abuse-related eye injuries?
Subluxation of the lens
Orbital fractures
How might abuse-related eye injuries present?
Bruising (e.g. near ears), behaviour change (encephalopathy?), emesis, squint
How might brainstem injury present?
Sun-setting: Eyelids retract, down-facing pupils, superior sclera visible
What types of retinal haemorrhages are there?
Pre-retinal (under fovea), flame (retinal nerve fibre layer), dot and blot (deep retinal)
Non-accidental head injury and birth are the only causes of what?
Multiple retinal haemorrhages without disease or severe trauma
What can cause retinal haemorrhages?
High ICP
Post-partum hypoxia
Newborn haemolytic disease (vitamin K deficiency)
Coagulation disorders
Which studies suggested retinal haemorrhages are insufficient to diagnose non-accidental head injuries?
Geddes III
CONI study
What ocular features suggest brain injury or optic nerve damage?
Unreactive pupils, RAPD
How are paediatric head injuries assessed in ophthalmology?
Pre: MRI (haemorrhages or fractures)
RetCam, direct ophthalmoscopy after eye drops instilled
How does Shaken Baby Syndrome present?
Hypoxia
Low venous pressure
Vitreous shearing, traction, retinal haemorrhages (flame)
Which courts address suspected non-accidental head injury cases?
City County Court
What occurs in suspected non-accidental head injury court proceedings? How long do these last?
Single joint expert witness (or treating clinician) assesses trier of fact
26-week track
