paediatric ophthalmology -...

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

E. Maka: Paediatric Ophthalmology

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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


paediatric ophthalmology -...

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