oPatientPlus articles are written by UK doctors and are based on research evidence, UK and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the condition leaflets.
Eye problems in babies may be divided into congenital or acquired. Early detection and prompt treatment of eye problems is essential and should begin soon after birth, with examination for any structural abnormalities (such as cataract, corneal opacity and ptosis) and assessment of vision (see also separate article Child Health Surveillance). Undetected, such problems can lead to difficulties which can persist into adulthood and result in lack of self-confidence, together with lack of educational attainment and job opportunities.
Congenital problems may either be due to developmental problems, mainly secondary to genetic conditions, or to intrauterine damage from such factors as drugs or infection. There seem to be no common factors among mothers of babies with congenital eye problems. One study showed that cases with different isolated ocular congenital abnormalities had different maternal characteristics.
Defects of the globe
- Anophthalmos - complete failure of development of the optic vesicle.
- Congenital cystic eye - failure of development of the globe.
- Coloboma - failure of complete closure that can affect the iris, retina or choroid.
- Nanophthalmos - small eye with normal function.
- Microphthalmos - small eye without normal function (eg cataract, coloboma, congenital cyst).
Defects of the lids
- Congenital ptosis - this is usually due to defective muscles of the upper lid but may also be due to Horner's syndrome and 3rd nerve palsy.
- Eyelid colobomata - often associated with specific craniofacial syndromes.
Defects of the cornea
Corneal opacity can be partial or complete and caused by:
- Congenital glaucoma (most common with abnormally large eye).
- Damage from forceps.
- Endothelial development abnormalities.
- Persistent attachment of lens.
- Intrauterine inflammation.
- Interstitial keratitis.
- Megalocornea - an X-linked inherited defect associated with an abnormally large but clear, cornea.
Defects of the iris and pupil
- Corectopia - this is inappropriately positioned pupils. The condition is relatively common. The pupils are usually positioned upwards and outwards.
- Polycoria - two or more pupils may exist in one iris.
- Coloboma of iris - this is usually seen in the lower part of the iris towards nose but defects may affect other parts of the eye.
- Aniridia - this is a rare genetic defect with absent iris often with secondary glaucoma (in the absence of a family history, it may be associated with Wilms' tumour).
- Albinism - patients may also have poor eyesight and nystagmus.
- Heterochromia - irises of different colours may be associated with normal function or may occur with congenital Horner's syndrome.
- Congenital cataracts:
- May be secondary to maternal rubella infection or be an inherited defect.
- Small opacities may not cause visual problems but large opacities may cause nystagmus and amblyopia requiring surgery within a few weeks of birth. There is a high risk of glaucoma associated with surgery in the first year of life. One study found that incidence was variable and suggested that factors other than the age at which surgery was undertaken were involved in the aetiology of this condition.
- Glaucoma and vitreous haemorrhage (the other major complication) are also higher in babies with a family history of aphakic glaucoma, or who had nuclear cataract or persistent fetal vasculature syndrome. Such patients should be monitored closely postoperatively for the development of these conditions.
Other lens and anterior segment defects
Lens defects include colobomata and subluxation as occurs in Marfan's syndrome.
Rarely, incorrect development of the neural crest can cause a number of syndromes which affect the anterior segment. An example is Axenfeld-Rieger's anomaly, which consists of small eyes (microphthalmia), hypoplastic irises, polycoria (iris tears leading to the formation of more than one pupil in the iris ) and abnormal patterning of the chamber angle between the cornea and the iris. Glaucoma is often an important complication.
- The remains of the hyaloid artery may appear on the optic disc (Bergmeister's papilla) or of the lens (Mittendorf's dots).
- White pupil (leukocoria) can be caused by:
- Persistent hyperplastic primary vitreous.
- Stage V retinopathy of prematurity (retrolental hyperplasia).
- Severe posterior uveitis/vitritis.
Defects of choroid and retina
- A number of rare syndromes can cause these, including colobomata and Aicardi's syndrome (severe psychomotor retardation, corpus callosum agenesis, chorioretinal lacunae and early-onset infantile spasms).
- Scarring can result from congenital toxoplasmosis.
Benign abnormalities are frequently seen as in:
- Minor defects of retinal vessels at nerve head.
- Tilted disc from unusual angle of nerve entry.
More severe defects include:
- Central coloboma of the disc - this is also called 'morning glory syndrome'. The optic nerve head is funnel-shaped with a white dot in the centre, an elevated ring of pigment around the disc and vessels radiating out from the ring like spokes. It thus resembles the morning glory flower.
- Optic nerve hypoplasia - this may be unilateral or bilateral and is a non-progressive condition. It is now realised to be relatively common with many cases causing only minor visual impairment that may only become apparent later in life. However, in severe cases it can produce a range of visual defects including total blindness. It can be difficult to diagnose and is often associated with congenital defects of the brain and facies. See also separate article Septo-optic Dysplasia.
- Dermoids - these are most frequently seen superolaterally.
- Obstruction of nasolacrimal duct - this causes epiphora in up to 30% of neonates. It is thought to be caused by colonisation with bacteria (50% Gram-negative, 50% Gram-positive). Most cases resolve spontaneously, although persistent symptoms beyond the age of 12 months may require probing. Associated infection - eg conjunctivitis and dacryocystitis - may require antibiotics. Dacrocystitis can lead rapidly to generalised sepsis and an aggressive approach with intravenous antibiotics and surgical drainage is sometimes required.
- Craniofacial anomalies - a number of these can affect vision (eg craniosynostosis with downslanting palpebral fissures).
Poor vision with no apparent cause
The main causes include:
- Leber's congenital amaurosis (retinal dystrophy) - see also separate article Hereditary Retinal Dystrophies.
- Cone dystrophy.
- Oculomotor apraxia (a difficulty in controlling horizontal eye movement).
- Delayed visual maturation - defined as absence of visual response in a child aged under three months, due to gestational immaturity.
This is often bilateral and associated with other defects. Early diagnosis is necessary to avoid irreversible blindness. Signs include:
- Severe photophobia.
- Corneal haze.
- Corneal opacity.
- Increased corneal diameter.
- Increased size of eye (due to raised intra-ocular pressure and non-rigid sclera).
For more detail see separate article Congenital Primary Glaucoma.
This is a conjunctivitis occurring in the first 28 days of life. It is most commonly infective in origin: Neisseria gonorrhoeae, Chlamydia trachomatis, bacteria such as staphylococci, streptococci and viruses - notably the herpes simplex virus - but may also occur as a reaction to chemical irritants. Chlamydial and gonococcal infection can be life-threatening.
For more detail see separate article Ophthalmia Neonatorum.
Retinopathy of prematurity (retrolental fibroplasias)
This occurs when there is disruption of the vascularity of the retina. 80% of babies are less than 1 kg in weight and the condition is associated with prolonged administration of oxygen. Abnormal vessels develop in areas where vascular and avascular tissue meets. The condition sometimes resolves spontaneously but may require laser therapy or surgery.
For more detail see separate article Retinopathy of Prematurity.
Also known as squint, this occurs in less than 2% of babies. If it persists longer than three months of age, referral is indicated. It can be an early presenting feature of retinoblastoma (21% in one study).
For more detail see separate article Squints.
This is defined as reduced visual function in one or both eyes, not improved by refraction or removal of pathological obstruction to vision. It is caused by sensory deprivation with or without abnormal binocular interaction during the sensitive or critical period of retinal development in the first 2-3 years of life. The longer the period of visual disability, the worse the prognosis in terms of visual acuity. The most common causes are:
- Strabismus - secondary to suppression of images from the affected eye to avoid double vision.
- Anisometropia - failure to focus both eyes simultaneously.
For more detail see separate article Amblyopia.
Shaken baby syndrome
Intra-ocular haemorrhages produced by vigourous shaking of a baby may be the only sign of child abuse. Retinal haemorrhages, especially in children under the age of three years, are highly suggestive of shaking (unless there is a history of other head injury) - but there are other rare causes, such as blood dyscrasias and infections.
Further reading & references
- Dudek R, Fix J; Embryology, Edition 3, 2005
- Litmanovitz I, Dolfin T; Red reflex examination in neonates: the need for early screening. Isr Med Assoc J. 2010 May;12(5):301-2.
- No authors listed; Eye examination in infants, children, and young adults by pediatricians. Pediatrics. 2003 Apr;111(4 Pt 1):902-7.
- Davidson S, Quinn GE; The impact of pediatric vision disorders in adulthood. Pediatrics. 2011 Feb;127(2):334-9. Epub 2011 Jan 3.
- Gogate P, Gilbert C, Zin A; Severe visual impairment and blindness in infants: causes and opportunities for Middle East Afr J Ophthalmol. 2011 Apr;18(2):109-14.
- Lieven O, Ruther U; The Dkk1 dose is critical for eye development. Dev Biol. 2011 Jul 1;355(1):124-37. Epub 2011 Apr 22.
- Swindell EC, Liu C, Shah R, et al; Eye formation in the absence of retina. Dev Biol. 2008 Oct 1;322(1):56-64. Epub 2008 Jul 16.
- Matt N, Ghyselinck NB, Pellerin I, et al; Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis. Dev Biol. 2008 Aug 1;320(1):140-8. Epub 2008 May 11.
- Puho EH, Vogt G, Csaky-Szunyogh M, et al; Maternal demographic and socioeconomic characteristics of live-born infants with isolated ocular congenital abnormalities. Ophthalmic Epidemiol. 2008 Jul-Aug;15(4):257-63.
- Comer RM, Kim P, Cline R, et al; Cataract surgery in the first year of life: aphakic glaucoma and visual outcomes. Can J Ophthalmol. 2011 Apr;46(2):148-52.
- Tatham A, Odedra N, Tayebjee S, et al; The incidence of glaucoma following paediatric cataract surgery: a 20-year Eye (Lond). 2010 Aug;24(8):1366-75. Epub 2010 Apr 23.
- Kuhli-Hattenbach C, Luchtenberg M, Kohnen T, et al; Risk factors for complications after congenital cataract surgery without intraocular lens implantation in the first 18 months of life. Am J Ophthalmol. 2008 Jul;146(1):1-7. Epub 2008 Apr 14.
- Tumer Z, Bach-Holm D; Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet. 2009 Dec;17(12):1527-39. Epub 2009 Jun 10.
- Shah PK, Narendran V, Kalpana N; Aicardi syndrome: the importance of an ophthalmologist in its diagnosis. Indian J Ophthalmol. 2009 May-Jun;57(3):234-6.
- Choudhry N, Ramasubramanian A, Shields CL, et al; Spontaneous resolution of retinal detachment in morning glory disk anomaly. J AAPOS. 2009 Oct;13(5):499-500. Epub 2009 Aug 29.
- Hu J; The clinical characteristics and imaging findings of morning glory syndrome. J Huazhong Univ Sci Technolog Med Sci. 2008 Aug;28(4):465-8. Epub 2008 Aug 15.
- Roux P; Paediatric ophthalmology - What every GP should know. SA Fam Pract 2006;48(4): 47-50.
- Fussell JN, Wilson T, Pride H; Case report: Congenital dacryocystocele and dacryocystitis. Pediatr Dermatol. 2011 Jan-Feb;28(1):70-2. doi: 10.1111/j.1525-1470.2010.01365.x.
- Tay T, Martin F, Rowe N, et al; Prevalence and causes of visual impairment in craniosynostotic syndromes. Clin Experiment Ophthalmol. 2006 Jul;34(5):434-40.
- Delayed Visual Maturation, Ohio LIONS Eye Research Foundation, 2011
- McCourt MA et al, Neonatal Conjunctivitis, Medscape, Mar 2013
- Essuman V, Ntim-Amponsah CT, Akafo S, et al; Presentation of retinoblastoma at a paediatric eye clinic in ghana. Ghana Med J. 2010 Mar;44(1):10-5.
- Togioka BM, Arnold MA, Bathurst MA, et al; Retinal hemorrhages and shaken baby syndrome: An evidence-based review. J Emerg Med. 2008 Dec 10.
- Levin AV, Christian CW; The eye examination in the evaluation of child abuse. Pediatrics. 2010 Aug;126(2):376-80. Epub 2010 Jul 26.
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.
Dr Laurence Knott
Dr Laurence Knott
Dr Helen Huins