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Retinoblastoma is a malignant intraocular tumour that occurs in babies aged 12-24 months. In 95% of cases the baby survives, but early detection is important to combat the disease. It is essential to detect the disease in time to save the child’s life and to preserve the eyeball whenever possible.
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.
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:
The main symptoms of the disease are:
The disease affects 15,000 to 25,000 infants.
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.
Retinoblastoma requires personalized treatment determined by the characteristics of the tumour and the age of the patient. Methods used to combat it include:
Treatment will vary according to the characteristics of the tumour (size, location, laterality, and extraocular extension).
A white reflection in a child’s pupil is symptomatic of the disease and must therefore be urgently treated.
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