Congenital abnormalities of the eye

Blocked nasolacrimal duct

Daccryostenosis, or blocked nasolacrimal duct, this is when the tear duct is blocked at birth due to incomplete development of the nasolacrimal duct. Some patients have teary eyes. The eye itself appears normal, unless infection occurs (dacryocystitis), which is accompanied by purulent or mucopurulent discharge and, in some cases, conjunctivitis.

Massage of the lacrimal sac is usually sufficient in young babies.

  Left internal squint

Strabismus in childhood is often noticed within weeks of birth. Older children may complain of double vision. It can be confirmed by asymmetrical light reflections from the eyes.

Early treatment is important and may involve glasses, a patch over the good eye, or surgical correction. If left uncorrected, vision in the affected eye may be lost.


The medial canthus of the eye is obscured by a fold of skin that stretches from the medial part of the eyebrow towards the lower lid. This may be a feature in certain races such as the Japanese or Chinese and in Down's syndrome.

When seen in young children, it tends to disappear with age. It may be confused with squint but light reflection from the eyes can distinguish between them. Treatment is unnecessary but the appearance can be altered with surgery.


Congenital ptosis
In ptosis, the upper eyelid of one or both eyes 'droops'. If the lid covers the pupil, it can interfere with vision. A torticollis can develop if the head is tilted to maintain binocular vision. Should a ptosis develop gradually or without a family history, a full examination and neurological check are required.

In mild cases, regular vision checks should be made. Surgical correction is available if vision is affected or an ocular torticollis is present. Results are usually good.

Microphthalmia and anophthalmia
Anophthalmia (absence of one or both eyes) and microphthalmia (abnormally small eye or eyes) are congenital malformations of the eye, sometimes associated with other congenital abnormalities. The condition is obvious at birth. In some cases no cause is found but others may be genetic or the result of maternal infection, such as rubella or toxoplasmosis, in pregnancy.

Management of microphthalmia and anophthalmia
Occasionally, microphthalmia patients have residual vision. This may be encouraged if the good eye is patched.

There is no treatment to restore vision in the unseeing eye. Early advice on surgery is important. If left untreated, the patient may suffer from disfigurement. As in this girl, an ocular prosthesis can improve appearance.


Coloboma is due to a failure of closure of the foetal cleft and may affect the eyelid, iris, ciliary body, choroids or optic disc. In most cases there is a family history. In this patient the iris was affected, giving the pupil a 'keyhole' appearance.

Depending on the extent of the lesion, central vision may be affected. Vision is sometimes difficult to assess in young children and may only become clear when the patient can communicate fully.


Keratoconus is a progressive, bilateral disease of the cornea in which the central surface becomes, bowed forwards and scarred. Depending on severity, vision may be lost. Symptoms are usually noticed in the teenage years.

Initially glasses or soft contact lenses are helpful, but with progression, rigid lenses are required. Surgery, in the form of shaving of the corneal surface or corneal transplant, is available.

Contributed by Dr Jean Watkins, a GP locum in Hampshire


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