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Ophthalmology: Paediatrics
Eye Tumours
- Choroidal melanoma (uveal melanoma):
- The commonest primary intraocular tumour in adults; often found on routine examination (pigmented mass), or blurred vision, flashes, field loss.
- Spreads to the liver (check LFTs, liver imaging).
- Treated at specialist centres -plaque brachytherapy, proton beam radiotherapy, or removal of the eye.
- Metastatic disease -tebentafusp (for people with a specific HLA type).
- Choroidal naevi are common and benign; monitored for change.
- Metastases to the eye -overall the commonest intraocular tumour (breast and lung cancer).
- Vitreoretinal lymphoma -older people with "uveitis" that doesn't respond to steroids; linked to CNS lymphoma.
- Eyelid tumours -basal cell carcinoma (most), squamous cell carcinoma, sebaceous carcinoma, melanoma, Merkel cell carcinoma.
- Conjunctival tumours -squamous cell carcinoma (HIV, sun exposure), melanoma, lymphoma (salmon-pink patch).
- Orbital tumours -lymphoma, cavernous haemangioma, meningioma, optic nerve glioma (NF1), lacrimal gland tumours, metastases. Present with proptosis, double vision or visual loss.
- Retinoblastoma -children (see below).
Squint and Amblyopia
- Squint (strabismus) -the eyes point in different directions:
- Esotropia (turns in), exotropia (turns out), hyper- or hypotropia (up or down).
- Concomitant (non-paralytic) -the angle is the same in all directions; common in children; often from long sight.
- Incomitant (paralytic) -varies with gaze; nerve palsy or restriction; needs investigation.
- Tests:
- Corneal light reflex (Hirschberg) -reflections should be in the same place in each pupil.
- Cover test -cover the straight eye; the squinting eye moves to take up fixation.
- Red reflex; acuity.
- Pseudosquint -wide nasal bridge and epicanthic folds make the eyes look turned in; light reflexes are symmetrical.
- Normal -intermittent squint can be normal in the first 3 months of life.
- Amblyopia ("lazy eye"):
- Reduced vision in an eye that is otherwise healthy, because the brain didn't get a clear image during development.
- Causes -squint, unequal glasses prescription (anisometropia), blocked vision (cataract, ptosis).
- Treat early -best results before age 7–8, when the visual system is still developing.
- Treatment -glasses first; then patching the good eye or atropine drops to blur it.
- Refer any child with a persistent squint; urgently if sudden onset, with a poor red reflex, headache, or other neurological signs (tumour, raised ICP).
- Squint surgery -to straighten the eyes (cosmetic and to help binocular vision).
White Pupil and Retinoblastoma
- Leukocoria -a white pupil (often first seen in a flash photograph) or an absent red reflex.
- Causes:
- Retinoblastoma -must be excluded.
- Congenital cataract.
- Retinopathy of prematurity; Coats disease; toxocara; persistent fetal vasculature; retinal detachment.
- Retinoblastoma:
- The commonest eye cancer of childhood -usually under 5.
- RB1 gene (chromosome 13). Bilateral or family history = heritable (germline) form -also a lifelong risk of other cancers (osteosarcoma, soft tissue sarcomas), especially after radiotherapy.
- Features: White pupil, new squint, red painful eye, poor vision, family history.
- Referral (NICE NG12) -absent red reflex: refer urgently (within 2 weeks) for assessment for retinoblastoma. A new squint or change in vision: urgent if there is a family history of retinoblastoma.
- Treatment at the national centres (London and Birmingham) -chemotherapy (IV or intra-arterial), laser, cryotherapy, plaque radiotherapy, or eye removal. Survival in the UK is over 95%.
- Genetic testing and screening of siblings and offspring.
- Congenital cataract -found at the newborn and 6–8 week red reflex checks. Needs surgery within weeks to prevent dense amblyopia. Causes: genetic, infection (rubella, CMV, toxoplasmosis), galactosaemia, Down syndrome.
⚠️ Safety Pearl: Take a parent's concern about a "white eye in photos" seriously -examine the red reflex and refer urgently if it is absent or abnormal.
Retinopathy of Prematurity
- What it is: Abnormal blood vessel growth in the immature retina of premature babies; can cause retinal detachment and blindness.
- Risk factors: Low gestational age and birth weight; high or fluctuating oxygen levels; sepsis.
- Screening (UK guideline): Babies born before 31 weeks or weighing under 1,501 g -dilated eye examinations on the neonatal unit from a few weeks after birth.
- Treatment: Laser to the peripheral retina, or anti-VEGF injection.
- Prevention: Careful oxygen targeting in neonatal care.
- Long-term -higher risk of short sight, squint, amblyopia; follow-up.
Other Childhood Eye Problems
- Vision screening:
- Newborn and 6–8 week checks -red reflex (cataract, retinoblastoma).
- Orthoptist screening at age 4–5 -amblyopia and squint.
- Blocked tear duct (congenital nasolacrimal duct obstruction) -watery, sticky eye from birth; usually clears by 12 months; massage; probing if persistent.
- Congenital glaucoma -large eyes (buphthalmos), cloudy cornea, watering, photophobia. Urgent referral -surgery.
- Non-accidental injury -retinal haemorrhages (many, in several layers, extending to the periphery) in a baby with unexplained brain injury suggest abusive head trauma. Follow safeguarding procedures; ophthalmology examination with photographs.
- Periorbital and orbital cellulitis -see the Red Eye and Eye Emergencies chapter.
- Nystagmus in infancy -may be idiopathic or a sign of poor vision (albinism, congenital cataract, optic nerve problems) or brain disease; refer.
- Myopia in children -increasingly common; more time outdoors helps prevent it; low-dose atropine drops and special lenses can slow progression.
- Allergic eye disease and conjunctivitis -common; see the Red Eye chapter.
Drug Reference Table
| Drug | Key points |
|---|---|
| Apraclonidine drops | Confirms Horner syndrome (Horner pupil dilates). |
| Pilocarpine 0.1% / 1% | 0.1% constricts an Adie pupil; 1% fails to constrict a pharmacologically blocked pupil. |
| Pyridostigmine | Ocular myasthenia; diarrhoea, cramps. |
| Thiamine IV (Pabrinex) | Wernicke's encephalopathy with ophthalmoplegia -give before glucose. |
| Methylprednisolone IV | Active moderate to severe thyroid eye disease (weekly regimen); dysthyroid optic neuropathy. |
| Selenium | Mild thyroid eye disease for 6 months. |
| Teprotumumab | Anti-IGF-1R antibody for moderate to severe thyroid eye disease; hearing loss, high glucose. |
| Valganciclovir / ganciclovir | CMV retinitis; low white cells. |
| Atropine 1% drops | Amblyopia treatment (blurs the good eye). |
| Hydroxychloroquine | Keep to 5 mg/kg/day or less; yearly retinal screening after 5 years (1 year if high risk). |
| Ethambutol | Baseline acuity and colour vision; stop if vision changes. |
Spot the Diagnosis
| Clue | Diagnosis |
|---|---|
| Small pupil, mild ptosis and neck pain after a chiropractic manipulation | Horner syndrome from carotid dissection |
| Horner syndrome, shoulder pain and wasted hand muscles in a smoker | Pancoast tumour |
| Ptosis, eye down and out, dilated pupil, severe headache | Posterior communicating artery aneurysm |
| Ptosis, eye down and out, normal pupil, diabetes | Microvascular third nerve palsy |
| Double vision going downstairs after a head injury | Fourth nerve palsy |
| Can't abduct both eyes, headache worse lying down | Sixth nerve palsies from raised ICP |
| Young woman, failure of adduction with nystagmus of the other eye | INO (MS) |
| Ptosis worse in the evening, normal pupils | Ocular myasthenia |
| Large pupil, slow to react, absent ankle jerks, young woman | Holmes–Adie syndrome |
| Fixed dilated pupil after ipratropium nebulisers | Pharmacological mydriasis |
| Small irregular pupils that react to near but not light | Argyll Robertson pupils (neurosyphilis) |
| Proptosis, lid retraction, falling colour vision | Dysthyroid optic neuropathy -emergency |
| Hypopyon uveitis with oral and genital ulcers | Behçet's disease |
| Floaters with CD4 count 30 | CMV retinitis |
| Brown ring at the edge of the cornea with tremor and abnormal LFTs | Wilson's disease |
| Tall man with upward lens dislocation | Marfan syndrome |
| Bilateral sudden blurred vision 2 weeks after starting topiramate | Drug-induced angle closure |
| Yellow vision and nausea on digoxin | Digoxin toxicity |
| White pupil in a toddler's photos | Retinoblastoma -urgent referral |
| Absent red reflex at the 6-week check | Congenital cataract |
| Multilayer retinal haemorrhages in a baby with a subdural haematoma | Abusive head trauma |
Exam-style Scenarios
1. A mother says her 18-month-old's left eye "glows white" in photographs. The child has also developed an inward squint on that side. Answer: Suspected retinoblastoma.
- Examine the red reflex; urgent ophthalmology referral (within 2 weeks; sooner per local pathway).
- Treatment at a national retinoblastoma centre; genetic testing (RB1) and sibling screening.
Key Points
- Anisocoria worse in the dark -small pupil abnormal (Horner); worse in light -large pupil abnormal (third nerve, Adie, drugs).
- Painful Horner syndrome = carotid dissection until proven otherwise; Horner with arm symptoms in a smoker = Pancoast tumour.
- Monocular diplopia is an eye problem (often cataract); binocular diplopia is a nerve, muscle or junction problem.
- Third nerve palsy with a dilated pupil = aneurysm until proven otherwise -CT angiography the same day.
- Fourth nerve: vertical diplopia going downstairs, head tilt; sixth nerve: can't abduct -consider raised ICP.
- INO: MS in the young, stroke in the old. Myasthenia: fatigable ptosis, normal pupils.
- Thyroid eye disease: stop smoking; radioiodine can worsen it; optic neuropathy needs IV steroids and decompression.
- Uveitis can be the first sign of HLA-B27 disease, sarcoid, Behçet's, syphilis, TB or lymphoma.
- Hydroxychloroquine: 5 mg/kg/day or less; yearly retinal screening after 5 years.
- Topiramate can cause bilateral angle closure; vigabatrin causes permanent field loss; tamsulosin affects cataract surgery.
- Amblyopia must be treated early (glasses, patching or atropine) -refer any persistent squint.
- Absent red reflex or white pupil in a child -urgent referral for retinoblastoma or cataract.
- Screen premature babies (under 31 weeks or under 1,501 g) for retinopathy of prematurity.
Guidelines and Further Reading
- The Royal College of Ophthalmologists: Hydroxychloroquine and chloroquine retinopathy -recommendations on monitoring
- EUGOGO and British Oculoplastic Surgery Society guidance on thyroid eye disease
- NICE NG12: Suspected cancer -recognition and referral (retinoblastoma)
- RCOphth and RCPCH: UK screening guideline for retinopathy of prematurity
- Public Health England / NHS: Newborn and infant physical examination (NIPE) and child vision screening
- DVLA: Assessing fitness to drive (diplopia and visual fields)
- BNF -for current doses
End of chapter 116