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