Paediatric Ophthalmology
SEMMELWEIS UNIVERSITY, FACULTY OF MEDICINE
DEPARTMENT OF OPHTHALMOLOGY, BUDAPEST
DIRECTOR: PROF. DR. ZOLTÁN ZSOLT NAGY
Erika Maka MD
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Why? When? How?.?.?.?.
• without problem - Screening
• with problem - Examination
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Inspection Visual Acuity Cover test Examination (sometimes EUA: Examination Under Anaesthesia)
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Tear
Discharge
Red eye
Leukocoria
Anisocoria
Diplopia
Trauma
…
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Brückner test
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Ophthalmoscopy / Funduscopy
• Direct: an upright, or unreversed, image of approximately 15 times magnification.
– Red reflex
– Brückner test
• Indirect: an inverted, or reversed, direct image of 2 to 5 times magnification
– Binocular
– Slit lamp
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• Developmental disorders
• Inflammations
• Tumours
• Trauma
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• Epiphora
• No pain
• Discharge
• Sticky eyes
• No red eye
CNLDO
Congenital Nasolacrimal Duct Obstruction
Management
– Conservative
• massaging of the ducts may be enough because of the high rate of spontaneous resolution
• regular cleaning of any discharge from the eyelids and nose
• Use topical antibiotics for any episodes of associated conjunctivitis
– Surgical
• 6 months - 1 year of age: probing (Occasionally a dacryocystorhinostomy procedure is required)
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Neonatal conjunctivitis
Eyelids are usually swollen.
Red eye: conjunctival injection & oedema
Discharge:
– Purulent
– Watery
– Sanguinary
– Time
– 3-5 days: Neisseria (!)
– 7-14 days: Chlamydia (!)
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Congenital glaucoma
• Buphthalmos
• Photophobia
• Pain
• Cloudy cornea
Maka E. et al.
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Aniridia
Bilateral
Nystagm
Visual impairment
Photophobia
Glaucoma
With or without:
– Wilms tumour (nephroblastoma)
– Urogenital anomalies
– Mental retadation
– WAGR
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Congenital cataract
Amblyopia (deprivation)
– uni-, bilateralis
– Presentation: Leukocoria Strabismus Nystagmus
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Brückner test: check the red reflex
Newborn – before admission, 1, 3, 6 and 12 month of age and If the parents recognise abnormality
+ cover test
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Morphology
• Cataracta totalis
• Cataracta polaris anterior
• Cataracta subcapsularis anterior – Uveitis
– Trauma
– Irradiation
– Atopic dermatitis
– Alport syndrome
• Cataracta stellata /suturalis
• Cataracta nuclearis – „oil drop” : Galactosaemia (+C. subcapsularis posterior, C. nuclearis, C.corticalis)
• Cataracta nuclearis, lamellaris et coronaria
Early intervention!!!
Indication for surgery: >3mm
Indication for surgery: >3mm
Period without inflammation
Systemic and local perioperative treatment
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Morphology
• Cataracta membranous
• Cataracta subcapsularis posterior – Steroid induced
– Irradiation
• Cataracta punctata corticalis (coerulea) „Blue dots”
– Syndrome: Down
• PFV (persistent foetal vasculature)
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Paediatrics
• Intrauterin infection ? (prenatal histotory, microcephalia, growth retardation, cardiology?, hearing problem?)
– TORCHS (toxoplasmosis, rubeola, herpes, syphilis)
• Bilateral cataract – galactosemia?, TORCHS?
– galactokinase deficiency?
– Glaucoma? Hypotonia? Developmental delay? – Lowe syndrome
• Hypocalcaemia, mannosidosis, glucose ?, hyperferritinaemia
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Therapy
• Without surgery:
– Peripheral opacities
– < 3mm
Check the refractive power! (astigmatism? ) Glasses?
Amblyopia ?
Occlusion
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Therapy - surgery
• At time! (critical periode! in visual development)
– unilateral: 4-6 week
– Bilateral: 6-8 week
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EUA: Examination Under Anaesthesia
– AL: axial length of the eye
– K: Refractive power of the cornea
(keratometry)
– IOP
– White-To-White
corneal diameter
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Amblyopia treatment
• Unilateral: (4 months of age – 4 hours)
• After 8 months of age – half of the day
• Bilateral
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Check-up
• subconjunctival steroid + IOP?
• Removement of the sutures
– 4-6 weeks
– Refractive error?
– IOP?
• RE?, IOP?, PCO?
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Retinoblastoma
Malignant tumour
1:16.000-20.000 / live birth
Different prognosis
? Health care
? Early or late diagnosis
? Available treatment
? Cultural differences
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Genetics
RB1
13q14
27 exon › mRNS › nucleophosphoprotein (pRB) (regulation of cell cycle)
26 intron
(point mutation - deletion)
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Genetics
Two mutation (both RB1 allel) (Knudson model)
First: germinal or somatic
Second: somatic (retina)
Heritable RB
In 90-95% of cases bilateral
Age of onset: usually less than 1 year
In 10-20 % of cases positive family history (familiar)
High risk: pineal gland tumours, secondary osteosarcoma, melanoma
50% risk of passing on an RB1 mutation to an offspring
Nonheritable form
Unilateral
Later diagnosis
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Presenting features
Number of patients
Main presenting signs(%)
Abramson et al. USA 1998 1265 Leukocoria (56), Strabismus (24)
Poor visison (8)
Wallach et al. Switzerland 2006 139 Leukocoria (48), Strabismus (20)
Zhao et al. China 2011 470 Leukocoria (73)
Chang et al. Taiwan 2006 56 Leukocoria (71), Red eye (18)
Strabismus (14)
Ali et al. Sudan 2011 25 Enlarged eye (56) Leukocoria(32)
Owoeye et al. Nigeria 2006 20 Proptosis (85)
Saiju et al. Nepal 2006 30 Leukocoria (43)
Extraocular mass (33)
Boubacar et al. Mali 2009 55
Proptosis (55) Leukocoria (38), Strabismus (6) Buphthalmus (2)
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MR - Diagnosis
– Optic nerve?
– Chorioidea?
– Corpus pineale?
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Treatment
Oncoteam
Goals:
Save the life
Save the eye
Preserve as much vision as possible
Minimize the risk of late sequelae from treatment
Local therapy: Transpupillary thermotherapy, Cryotherapy
Chemotherapy: intravitreal, intraarterial, systemic
Radiation therapy: plaque radiation therapy (brachytherapy), external beam radiation therapy (EBRT)
Surgical therapy: enucleation, exenteration
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ROP= Retinopathy of prematurity
0
0,5
1
1,5
2
2,5
3
High Income EasternEurope/
Central Asia
Latin Americaand
Caribbean
East andS.East Asiaand Pacific
North Africaand Middle
East
South Asia Sub-SaharanAfrica
Increasing survival;
sub-optimal neonatal care;
low coverage with ROP programs
High mortality
amongst
preterm infants
Gilbert, The Lancet 1997. The “third
epidemic” of blindness due to ROP.
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Control of blindness due to ROP
Primary prevention reduce preterm birth
antenatal steroids
appropriate resuscitation techniques
very good neonatal care
Secondary prevention diagnosis by ophthalmic examination
timely treatment and follow up
Tertiary prevention sight cannot be restored once lost
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Vasculogenesis & angiogenesis
RF Gariano: Special features of human retinal angiogenesis. Eye 2010;24:401-407
JT Flynn, T Chan-Ling: Retinopathy of Premaurity: Two Distinct Mechanism That Underlie Zone 1 and Zone 2 Disease. Am J Ophthalmol 2006;142:46-59
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Pathogenesis
A Hellstrom és mtsai: Low IGF-1 suppresses VEGF-survival signaling in retinal endothelial cells: direct correlation with clinical retinopathy of prematurity. Proc Natl Acad USA 2001;98:5804-5808 LEH Smith: Pathogenesis of retinopathy of prematurity. Seminars in Neonatology 2003;8:469-473 J Chen, LEH Smith: Retinopathy of prematurity. Angiogenesis 2007;10:133-140
1st phase: Hyperoxia – VEGF ↓ – vasoobliteration – regression of capillaries
2nd phase: Hypoxia – VEGF ↑ – vasoproliferation
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The gold standard of the examination
• dilation of the pupils :
tropicamid 0.5% &
• phenylephrin 2.5%
• local anaesthesia:
• oxybuprocaine 0.4%
• sterile wire lid speculum &
• muscle hook
• indirect binocular ophthalmoscopy (IBO)
• lenses (20, 28, 40 D)
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Timing of first eye examination based on gestational age at birth
Gestational age at birth Age at initial examination (w)
(w) Postmenstrual Chronologic
22 30-31 9
23 30-31 8
24 30-31 7
25 30-31 6
26 30-31 5
27 31 4
28 32 4
29 33 4
30 34 4
31 35 4
32 36 4
Screening Examination of Premature Infants for Retinopathy of Prematurity, Pediatrics 2006;117:572-576
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Arch Ophthalmol 2005,123:991-999 (The International Classification of Retinopathy of Prematurity Revisited)
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Type 1 ROP
Zona I
any Stage +
Stage 3 -
Zona II
Stage 2 +
Stage 3 +
treatment
Type 2 ROP
Zona I
ROP1-
ROP2-
Zona II
ROP3-
observation
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Laser photocoagulation
Dilation of the pupils :
tropicamid 0.5% &
phenylephrin 2.5%
Sterile wire lid speculum & muscle hook
Lenses (20, 28, 40 D)
Arteficial tears drops
Portable laser with an indirect binocular ophthalmoscope
NICU or operating theater
Under general anaesthesia
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VEGF
• Development of retina (vasculogenesis, regulation of permeability)
• Nervous system
– Peripheral (neurotrophic)
– Central (neuroprotection)
• Lung (pneumotrophic)
Nature Neuroscience 2011;14:1390–1397 Nature Medicine 2002;8:702-10
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Anti-VEGF treatment for ROP: BE CAUTIOUS! • Anti-VEGF therapy may be indicated
in selected severe cases after careful explanation to parents
– no alternative available
– vitreous hemorrhage
– failure of adequate laser
– in randomized clinical trials with careful long term follow-up
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ROP story doesn’t end with acute ROP
• At 5-7 days
– ? Plus disease
– ? Stage 3
– ? Vitreous haemorrhages
• Refractive errors
– Myopia (MOP)
– Astigmatism
• Amblyopia
• Strabismus
• Nystagmus
• Glaucoma (GOP)
• Late retinal detachment
• PVL – cerebral visual impairment
Important! to follow these children
Supplementary treatment? (laser/vitrectomy)
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Time in childhood
– Early diagnosis
– Early treatment (treatment at time)
– Vision – QoL – throughout the life
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