Paediatric Ocular Disease
Notes to accompany lecture to 2nd Year City University undergraduates

Dr Simon Barnard PhD BSc FCOptom FAAO DCLP

Table of Contents


The red eye




EOM anomalies


Congenital abnormalities and syndromes

Systemic disease and the eye

Neurological disease

; Paediatric neurodevelopmental disorders

Further reading

Multiple Choice Questions

MCQ Answers… do not view till you have attempted all questions



Common in childhood. Sometimes child may be reluctant to report injury.

Periorbital bruising

"Black eye" due to haemorrhage into lid and orbital tissue. May cause ptosis. Check that the eye is healthy and motility full.

Lid lacerations

May need cleaning and treatment with surgical adhesive tape or repair depending how superficial.

Subconjunctival haemorrhage

Common at birth. In child may be due to minor trauma, Valsalva, or non-accidental injury.

Corneal abrasions

Antibiotic eye ointment + cyclopentolate or homatropine (+ pressure patch ?). Do not patch vegetative abrasions. Follow up 24 hrs. DO NOT USE aspirin as analgesic in children under 16 years (Reye's syndrome)

Chemical injuries

IRRIGATE (eg 20 mins) and remove any chemical particles. Alkaline burns are AN EMERGENCY.

Corneal foreign body

Remove if epithelial (spud or needle) following instillation of anaesthetic. Cycloplegic and antibiotic eye ointment (+ pressure patch ?).


Blood in anterior chamber. 5% develop secondary glaucoma. 30% have intraocular pressure rise in acute phase (first week).

Orbital blow out fracture

Possible entrapment of orbital fat/extraocular muscle. Diplopia.

Non- accidental injury

"you name it : you can get it", but most commonly bruising, sub-conjunctival haemorrhages. Retinal haemorrhages from shaking, abdominal pressure (Purtscher's retinopathy), or direct trauma. Various factors raise your index of suspicion.

The red eye


Acute inflammation of orbital tissues.


Differentiating orbital/preseptal cellulitis and cavernous sinus thrombosis

Preseptal Orbital Cavernous sinus thrombosis

Lid oedema Moderate Marked Marked

Skin Red Red Blue purple

Conjunctiva White Swollen Swollen

Warmth Yes Yes No

Proptosis No Marked Marked

VA Normal Reduced ? Reduced

Pupil Normal Normal Abnormal

Motility Full Restricted Paresis

Pain No Yes Yes/No

Temperature Normal Elevated Elevated

Disc Normal Normal Disc oedema

Ophthalmia neonatorum

Commonly gonoccocal.

Bacterial conjunctivitis

Muco/purulent discharge. Haemophilus influenzae (gram negative). Common in children 5 weeks to 5 years. Conj. haemorrhages. Purplish discoloration of lids. Treat with aminoglycosides (eg gentamycin), chloramphenicol .

Staphylococcus (gram positive) Treat with chloramphenicol, erythromycin

Chlamydia most common cause of conjunctivitis in infants aged 5 days to 5 weeks.

Viral conjunctivitis

The most common cause of infective conjunctivitis. Hyperaemia, watering, f.b sensation, follicles, pre auricular lymph nodes. Adenovirus. Very contagious. Epidemic keratoconjunctivitis (EKC) (adenovirus 8,19). Treatment supportive, cold compresses.

Allergic conjunctivitis

(Type 1 allergy) eg associated with hay fever. Itching, watering, papillae, chemosis. Treatment - vasoconstrictors, mast cell stabilisers, antihistamines.

Vernal keratoconjunctivitis

Seasonal. Itching, tearing, thick ropy discharge. Giant papillae. Management - topical lubricants. Mast cell stabilisers before onset, topical steroids after. May lead to corneal ulcer.

Corneal ulcer

Many causes. Vitamin A deficiency, systemic infections (eg measles), neglected trauma, vernal KC, herpes simplex (treated with topical anti-virals).


Chlamydia trachomatis. Recurrent conjunctivitis. Follicles. Lid scarring, trichiasis, secondary infections.


Skin allergies (Dermatitis)

Type 1 hypersensitivity



Prominent fold of skin on lower lid causes entropion. Resolves with growth.


Most often caused by congenital weakness of levator. Deprivation amblyopia. Marcus-Gunn jaw-winking (pterygoid-levator synkinesis).

Angular dermoid

Benign tumour (choristoma) of a variety of embryological and histological origins. Commonest position are superior temporal brow and outer canthus region. Always painless. Usually stationary or slightly mobile. Surgery for cosmetic reasons only. Associated with e.g. Goldenhar's syndrome.

Capillary hemangioma.

"Strawberry naevus". Spontaneously involutes. If pupil covered swift intervention necessary.

Eye lid margin problems



Commonly from Staphylococcus. Bacteria produce toxins leading to marginal keratitis, corneal infiltrates or phylctenular keratoconjunctivitis. Treatment includes "lid scrubs", topical antiobiosis and consideration of steroids for infiltrates.

Demodex follicularum very common in elderly. Rarer in children except immunologically compromised. Aracnid. Itching eye lids. Distinctive collarette. Suffocate with simple eye ointment.

Pediculosis capitis/corporis & Phthirius pubis. The latter species may infest glabella and eye lashes. Mercuric oxide ointment 1% or suffocate with simple eye ointment.



Local infection of lash follicle (Zeiss or Moll). Hot compresses and antibiosis.


Tarsal cyst

Acute = Meibomian cyst. Chronic produces fibrous chalazion. Hot compresses. If spontaneous resolution does not occur, curettage may be necessary.


Molluscum contagiosum

Small (3-5 mm) umbillicated nodule with yellow "cheesy" core which can intermittently discharge. Viral. Leave alone unless discharging in which case curettage may be carried out.

Watering eye


Nasolacrimal duct blockage

Delayed patency very common in infants. Usually spontaneously open within weeks. Management - massage and hot compresses. Refer if marked mucopurelent discharge, dacryocystitis or if not resolved after 12 months for dilation and probing under general anaesthetic.


Buphthalmos (infantile glaucoma)

May be congenital but frequently does not manifest until up to 1 year of age. Epiphora, photophobia, cloudiness of cornea, macrocornea. Goniotomy or trabeculotomy.


Primary open angle glaucoma

POAG very rare in children. Children over five can be checked with static quantitative field techniques. Keeler Pulsair great for younger children and babies.


Orbital cellulitis

See above.

Orbital pseudotumour

Painful proptosis, lid and conjunctival swelling, limitation of ocular motility. Non-specific granuloma.


Commonest orbital malignancy in children (often 6-7 year olds)

Orbital dermoid cysts

The external lump may be the "tip of the iceberg" with the lesion extending into the orbit.

Optic nerve glioma



Sporadic or dominantly inherited. Usually arises before age 3 years. Presenting sign may be strabismus. Examine other members of the family. Smaller tumours can be treated with irradiation or cryotherapy. Larger tumours require enucleation of the eye and excision of optic nerve.

Retinopathy of prematurity

From mild peripheral vascular changes to advanced retinal scarring. Mild ROP can be associated with strabismus, amblyopia and myopia.. Cry- or laser treatment carried out in severe cases.


Eggs of these parasitic worms found in dog or cat faeces. Children may eat the eggs. Larvae have a predilection for CNS including retina. There is no effective treatment for ocular infection.

Persistent hyperplastic primary vitreous (PHPV)

Embryological remnant of hylaoid artery complex. Other end of extreme is Mittendorf dot.

Coat's disease

Extreme form of retinal ptelangiactasia.

EOM anomalies

e.g. s

Marcus Gunn jaw winking

Duane's syndrome A, B & C

Brown's syndrome


Latent e.g. associated with infantile esotropia

Visual deprivation Poor development of fixation reflexes in first few months of life. Cataracts, Leber's amaurosis, ROP, cortical blindness

Primary congenital secondary to a range of conditions. Recent onset nystagmus must be referred for further investigation.

Congenital abnormalities and syndromes

Craniofacial dysotoses

Abnormal skull development may lead to abnormal orbit shape and position and hypertelorism. May lead to strabismus. . e.g. Crouzon's disease, Apert's disease.


Small eye associated with intra-uterine infections such as rubella, cytomegalovirus and toxoplasmosis. Syndrome example - Goldenhar's syndrome.

Congenital cataract

Causes include autosomal dominant inheritance, prenatal infection e.g. rubella, metabolic disorders e.g. galactosaemia. 50% of patients cause is unknown. Take careful family history, blood and urine electrolytes and amino acids. Early surgery (before 3 months).

Congenital glaucoma

See above.

Corneal dystrophies

Congenital dystrophies are rare and present with cloudy corneas at birth. Two main congenital dystrophies are congenital hereditary endothelial dystrophy (CHED) and posterior polymorphous dystrophy (PPD). Other causes of cloudy corneas in infants include glaucoma and rubella. Note: Thygeson's epithelial keratitis is sometimes seen in teenagers. Keratoconus usually presents in teenagers. Increasing myopic astigmatism, conus, Fleicher's ring, atopy association (e.g. vernal conjunctivitis), stromal scarring, discomfort, watering. Treatment - optical, contact lenses, surgery.


Failure of fusion of choroidal fissure (seventh week). Iris, ciliary body, retina, choroid, optic nerve. Example of syndrome - Goldenhar's. Also see SB’s notes on Optic Nerve Disorders.

Persistent pupillary membrane

Embryological remnant.


Genetic disease with absence of iris, nystagmus, reduced VA, and sometimes glaucoma and peripheral corneal scarring.


Genetic. Reduced melanin. In oculocutaneous albinism there is little or no skin or eye pigmentation. The eyes look pink due to absence of iris, RPE and choroidal pigmentation. Photophobia, nystagmus, poorly formed foveae, reduced VA and abnormal nerve crossing at chiasma. Ocular albinism refers to milder form of albinism in which hair, skin and iris pigmentation are relatively normal but fundus pigmentation is reduced. Again, photophobia, nystagmus, poorly formed foveae, reduced VA and abnormal nerve crossing at chiasma.

Myelinated nerve fibres

Myelinated nerve fibres on retina. Also see SB’s notes on Disorders of Optic Nerve.

Retinitis pigmentosa

Inherited as autosomal dominant, recessive or X-linked. The dominant form has the best prognosis and the recessive disease the worst. Underlying defect is a bilateral and irreversible degeneration of the rod and, later, the cone photoreceptors. Typically an adolescent complains of poor vision in dim illumination. In the early stages clumps of pigment seen in peripheral retina and these progress centrally. Visual field defect often mid-peripheral, often progressing to "tunnel vision" and complete loss.

Leber's congenital amaurosis

Congenital form of retinal disease. The baby is blind, develops nystagmus and the electroretinogram shows absent electrical activity. Pigment changes similar to RP develop later.

Macular dystrophies

Poor acuity and colour vision. Nystagmus. Diagnosis by appearance of fundus and electrophysiological testing. Many different disorders.

Stargardt's disease autosomal recessive. insidious bilateral visual loss in first two decades of life. Early changes include mild pigmentary changes at the macular progressing to extensive retinal atrophy. Poor prognosis (6/60 or less). Vitelliform dystrophy or Best's disease autosomal dominant. Yellow cyst like sub-retinal deposit ("sunny-side up") progressing to more irregular disturbance ("scrambled egg"). Slow progress. Fairly good prognosis.

Toxoplasma chorioretinitis

Toxoplasma gondii protozoan. Transmission: oral, transplacental, transfusion, cats. Single or multiple focii of necrosis and granulomatous lesions affecting any organ. Prevention includes avoiding uncooked or "rare" cooked meat and avoiding cat litter during pregnancy. Dormant cysts persist within the lesions and occasionally reactivate during adult life. producing creamy-white fluffy opacities of the retina adjacent to the original scar. Treatment depends on severity. If threatening the macular then systemic use of e.g. sulfadiazine, clindamycin, pyrimethamine, steroids (all have side effects).


A Herpes virus. Commonest congenital infection in infants. At least 90% of adults in developed countries show past exposure to CMV (usually acquired during first 5 years of life). Usually sub-clinical. Manifests as CMV retinitis (e.g. in AIDS patient). Transmission - body fluids, trans-placental.

Optic nerve hypoplasia

Underdeveloped optic nerve due to reduced number of cells associated with mid-line brain defects e.g. septo-optic dysplasia with small stature. Ring of sclera visible around optic nerve head ("double ring"). Also see SB’s notes on Optic Nerve Disorders.


Optic nerve pit

A hole in the inferior temporal optic nerve head. Always juxtapositioned with the optic disc margin. 0.1 to 0.7 of disc. This is not related to a coloboma. Visual field defects. Possible central serous detachment. Monitor. Also see SB’s notes on Optic Nerve Disorders.


Optic nerve drusen

Hyaline spheres buried in the optic nerve. Superficial drusen are ophthalmoscopically visible. View with BIO or Volk lens. Disc appears raised. May progress. Visual field defects. Also see SB’s notes on Optic Nerve Disorders.


Systemic disease and the eye

Diabetes mellitus

Chronic disorder of carbohydrate metabolism and is the most common endocrine disorder in children. Most children are IDDM. Peak onset for IDDM is between about 6 years and puberty. Frequency 1:1500 at 5 years; 1:359 at 16 years. Diabetic retinopathy in childhood is rare. Optometrists should monitor and refer maculopathy, pre- and proliferative retinopathies. Slit lamp and gonioscopic examination of iris anterior chamber angles for all patients with diabetic retinopathy because of risk of rubeosis.


Ocular involvement is common in congenital rubella particularly if mother contracted the disease in first 4 weeks of pregnancy. Microphthalmia, cataract (usually bilateral nuclear progressive), glaucoma, corneal opacity, uveitis, small difficult to dilate pupil), pigmentary ("pepper & salt") fundus. The latter is not progressive and is compatible with good vision.

Down's syndrome

Trisomy 21. Staphylococcal blepharitis, broad epicanthal folds, keratoconus, cataract, Brushfield's spots. Caution: prone to idiosyncratic reactions to anti-muscarinic drugs.

Marfan's syndrome

Dominantly inherited condition. Three connective systems:- Skeleton: arachnodactyly and hyperextensible joints; Eye: lens dislocation, cataract and retinal detachment, lens induced uveitis; Cardiovascular: mitral valve prolapse, aortic root dilation-dissection.


Autosomal dominant phakomatosis ("mother spot"). Multisystem benign tumours of neuroectoderm. Café-au-lait pigmented skin patches and fibrous skin lumps. Small nodules on iris (Lisch nodules). Benign optic nerve gliomas may develop.

Sturge-Weber syndrome

A phakomatosis. "port wine stain". If upper eye lid involved glaucoma may occur. Dilated episcleral veins.


Stevens-Johnson syndrome

Iatrogenic induced allergy (commonly sulphonamides) causing conjunctival ulceration and scarring leading to dry eye and corneal disease.

Juvenile chronic arthritis (JCA)

Still's disease. Commonest cause of anterior uveitis in children. Anterior uveitis: often white painless eye. The only symptom is blurred vision. Signs include aqueous flare and cells. Always do slit lamp exam on child with reduced VA. If cells present ask about joint pain. Band keratopathy, glaucoma, cataract.


Can result in retinal haemorrhages and creamy white retinal infiltrates.


Neurological diseases>

Cortical blindness

Reduced acuity in presence of cerebral palsy, seizures, or general developmental delay. Disease of optic radiations or occipital cortex. Normal pupil reflexes.

Delayed visual development

Can occur in an otherwise normal baby. Appears to be blind in first few months but later develops normal vision. ERG, VEP and EEG rules out major organic disease. Wait and measure.

Optic atrophy

Inherited or as a result of neonatal anoxia, trauma, compression by tumour or secondary to hydrocephalic papilloedema.


Choked disc. Raised, indistinct margins, splinter/flame haemorrhages, enlarge blind spot. Normal vision and colour vision in early stages. Differential diagnoses include papillitis (may be very difficult), optic nerve drusen, hypermetropic pseudo-papilloedema. Raised intracranial pressure.


Paediatric neurodevelopmental disorders

Cerebral palsy

Non-progressive neurological disorder resulting from damage occurring to immature brain in utero, during or after birth. High incidence of visual anomalies including strabismus and significant refractive errors.

Spina bifida and hydrocephalus

Developmental defects caused by failure of fusion of neural tube occurring in early embryonic life. The neural tube may be affected anywhere along its length, although the thoracolumbar region is the most common. Hydrocephalus occurs in 80% of children with spina bifida. Hydrocephalus is caused by overproduction or malabsorbtion of cerebrospinal fluid and/or obstruction of the aqueduct. Nystagmus.


Fragile X

Mental retardation occurs in 3% of population and fragile X is the most common form of familial retardation being second only to Down's syndrome in frequency among children with chromosomal abnormalities. 30% prevalence of strabismus. High prevalence of significant refractive errors.



Severe difficulties in social interaction. Cause ? May be associated with fragile X chromosome. High prevalence of squint and eye movement control difficulties. Asperger’s syndrome.

Further reading

Dhillon B & Fleck B (1996) Diseases of the eye and orbit, Chapter 12 in Pediatric Eye Care Eds. Barnard S & Edgar D, Blackwell Science, Oxford

Taylor D (1990) Pediatric Ophthalmology, Blackwell Science, Oxford

Multiple choice questions

1) An infant with an enlarged cornea and photophobia is most like to be suffering from:

(a) keratoconus

(b) keratoglobus

(c) microcornea

(d) buphthalmos

2) A 7 year-old child presents with multiple brown organisms attached to the base of the eye lash follicles. You suspect

(a) pediculosis capita

(b) demodex follicularum

(c) pthirius pubis

(d) Arachnidia meibomianatus

3) A four month old infant presents with a watering eye with slight mucous discharge from the inferior punctum. Correct management is the following:

(a) dilation and irrigation

(b) dilation and probing

(c) topical antibiotic ointment

(d) hot compresses and gentle massage

4) The commonest cause of bacterial conjunctivitis in young children is

(a) Staphylococcus aureus

(b) Streptococcus pneumoniae

(c) Haemophilus influenzae

(d) Pseudomonas aeruginosa

5) Adenoviral conjunctivitis can be differentiated from bacterial conjunctivitis by

(a) the lack of mucopurelent discharge

(c) the presence of swollen pre-auricular lymph nodes

(d) the presence of follicles

(e) all of the above


6) Retinitis pigmentosa has the worst prognosis when the mode of inheritance is

(a) autosomal dominant

(b) recessive

(c) X-linked

(d) non-Mendelian

7) Hypertrophy may be best described as:

(a) a reduced number of cells

(b) an increased number of cells

(c) an increase in cell size

(d) a disturbance in cell growth involving both cell proliferation

and an altered differentiation

8) The commonest congenital infection is:

(a) rubella

(b) gonococcal ophthalmia neonatorum

(c) a herpes virus

(d) toxoplasmosis

9) A 12 year-old girl presents complaining of reduced vision and joint pain. Following refraction you find her VAs to be R. 6/9 L. 6/12. Slit lamp examination shows grade 2 cells in the anterior chamber. Which of the following may be a systemic disease associated with this uveitis:

(a) syphilis

(b) tuberculosis

(c) juvenile rheumatoid arthritis

(d) all of the above may cause uveitis in a twelve year -old

(10) A 10 year-old boy presents complaining of headaches after closework.

Both optic nerve heads appear swollen. Refraction show him to be R & L +3.50DS and he obtains 6./5 with each eye. You diagnose:

(a) optic nerve drusen

(b) papilloedema

(c) papillitis

(d) pseudo-papilloedema



MCQ Answers… do not view till you have attempted all questions












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