Intraocular tumour in childhood (Retinoblastoma)

This is tumour that occurs as a result of a mutation of chromosome 13 and which originates in the retina, the light-sensitive layer of tissue that allows the eye to see.

What is retinoblastoma?

In 60% of cases the mutation that causes retinoblastoma only affects  the eye (somatic retinoblastoma) but in some children  the mutation may affect all the cells in the body. This is known as “germinal retinoblastoma”. 90% of children with this disorder have no family history of the disease. In Spain, the survival rate is over 95%, but it is important to detect it as soon as possible.

There are two types of retinoblastoma:

• Unilateral retinoblastoma: only one eye is affected. This is the most common type.
• Bilateral retinoblastoma: both eyes are affected.

Symptoms

The main symptoms of the disease are:

• Leukocoria: a white reflection in the pupil
• Strabismus

Who is affected by retinoblastoma?

The disease affects 15,000 to 25,000 infants.

Diagnosis

To detect the disease, a thorough examination of the eye using an ophthalmoscope after dilating the pupils is carried out. Apart from this, an ocular ultrasound or a brain scan can be carried out, as well as genetic testing of the patient and sometimes their family.

Typical treatment

Retinoblastoma requires personalized treatment determined by the characteristics of the tumour and the age of the patient. Methods used to combat it include:

• Localised chemotherapy
• Systemic chemotherapy
• Laser therapy
• Cryotherapy
• External radiotherapy
• Enucleation

Treatment will vary according to the characteristics of the tumour (size, location, laterality, and extraocular extension).

Prevention

A white reflection in a child’s pupil is symptomatic of the disease and must therefore be urgently treated.