Congenital, developmental and neoplastic conditions

Published on 23/06/2015 by admin

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13.2 Congenital, developmental and neoplastic conditions

Greg Stevens

Essentials

1 These conditions are most likely to present with a concern from a parent or caregiver who has noted that there has been a change in the appearance of their child’s eyes, or that they are not responding to visual cues in an expected way.

A detailed examination will help to further define the abnormalities or deficits noted. These conditions require specialised investigations and management, and as such consultation with a paediatric ophthalmologist is advised.

Deficits in visual acuity

This may reflect a deficit anywhere from the visual cortex to the cornea and a careful examination including pinhole testing in children old enough to co-operate will help localise this and guide appropriate referral.

Strabismus

Abnormalities of the binocular alignment of the eyes, strabismus, may present with a concern from a parent that their child has a squint, and this may be confirmed by careful examination of the corneal reflex and use of the cover-uncover test.

Strabismus may be convergent (esotropia), divergent (exotropia), upwards (hypertropia) or downwards (hypotropia).

Strabismus may be a dynamic process, occurring in relation to alterations in the accommodative reflex with refractive errors.

The importance of strabismus lies in the development of amblyopia, which is the decrease in visual acuity occurring in visually immature children due to the lack of a clear image provided to the retina. It is usually unilateral. Strabismus may also be an early sign of significant visual pathology, e.g. retinoblastoma, retinitis of prematurity and Coats’ disease.

Paediatric cataracts

These can be detected as an abnormality of the red reflex. There is an association with several chromosomal, metabolic and intrauterine infective causes.

Congenital nasolacrimal duct obstruction

This is a common disorder, occurring in up to 6% of children. It presents with excessive overflow of tears. It has a good outcome, with 96% resolving by the age of 1 year.

Infantile glaucoma

Glaucoma in children is rare, but if undetected may cause blindness.

Because of the elasticity of the paediatric eye, significant enlargement of the cornea may occur, with subsequent clouding of the cornea. Excessive lacrimation and photophobia may be present. It is a cause of irritability in the infant.

The treatment is usually surgical.

Ocular tumours

Tumours may present with an evident deformity, with proptosis, or with an alteration in the visual axis. Any of the tissues in the orbit and eyelids may give rise to tumours. Children treated in infancy with radiotherapy for an intraorbital tumour are at increased risk of developing malignancies in the radiated area in later life.

Retinoblastoma

This is the most common primary intraocular tumour in childhood.

Hereditary and non-hereditary forms exist. The heredity forms are usually bilateral and multifocal. There is a defect of a tumour suppressor gene located on chromosome 13.

When the tumour is confined to the eye there is a good survival rate (>90%).

Rhabdomyosarcoma

This is the most common primary intraorbital tumour in childhood and usually occurs in the first decade.

Presentation may be rapid with associated eyelid oedema, and can lead to confusion with an infective process.

Neuroblastoma

The orbit is a common site of metastasis of neuroblastomas. The primary is usually abdominal and usually known at the time of orbital metastasis. Most occur in the first 5 years of age.

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13.2 Congenital, developmental and neoplastic conditions

Greg Stevens

Essentials

1 These conditions are most likely to present with a concern from a parent or caregiver who has noted that there has been a change in the appearance of their child’s eyes, or that they are not responding to visual cues in an expected way.

A detailed examination will help to further define the abnormalities or deficits noted. These conditions require specialised investigations and management, and as such consultation with a paediatric ophthalmologist is advised.

Deficits in visual acuity

This may reflect a deficit anywhere from the visual cortex to the cornea and a careful examination including pinhole testing in children old enough to co-operate will help localise this and guide appropriate referral.

Strabismus

Abnormalities of the binocular alignment of the eyes, strabismus, may present with a concern from a parent that their child has a squint, and this may be confirmed by careful examination of the corneal reflex and use of the cover-uncover test.

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