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«Paediatric Ocular Disease Simon Barnard Paediatric ocular disease Notes to accompany lecture to 2nd Year City University undergraduates Dr Simon ...»

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Paediatric Ocular Disease Simon Barnard

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............... 13 02 Ocular Disease 2 Trauma 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 ?).

Hyphaema 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 Cellulitis Acute inflammation of orbital tissues.

2 3 Differentiating orbital/preseptal cellulitis and cavernous sinus thrombosis

–  –  –

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).

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

3 4 Eyelids Skin allergies (Dermatitis) Type 1 hypersensitivity Epicanthus Epiblepharon Prominent fold of skin on lower lid causes entropion. Resolves with growth.

Ptosis 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 Blepharitis 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.

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

4 5 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.

Proptosis Orbital cellulitis See above.

Orbital pseudotumour Painful proptosis, lid and conjunctival swelling, limitation of ocular motility.

Non-specific granuloma.

Rhabdomyosarcoma 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.

5 6 Optic nerve glioma Leukocoria Retinoblastoma 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.

Toxocara 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 Nystagmus 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.

6 7 Microphthalmos 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 glaucomaSee 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.

Coloboma 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.

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

Albinism 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.

7 8 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).

Cytomegalovirus 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.

8 9 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.

Rubella 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 antimuscarinic drugs.

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