Retinoblastoma: symptoms, causes, treatment

By Cristiano Antonino On Jan 15, 2023

What is retinoblastoma? It is a tumour of the eye, which develops from the cells of the retina. The retina is very important in vision because its nerve cells are used to perceive visual signals.

It is a membrane located inside the eye.

During the early stages of eye development, retinoblasts, the precursors of the retinal cells, multiply and generate the cells that will make up the mature retina.

At these times, although rarely, it can happen that retinoblasts multiply irregularly, out of control and without maturing, giving rise to a tumour.

Retinoblastoma can therefore occur in children.

Symptoms of retinoblastoma

Leukocoria is the main alarming symptom of retinoblastoma.

It is a white reflex in the pupil.

Normally the pupil, when hit by light, appears red due to blood vessels.

In the case of retinoblastoma, however, it appears white.

The doctor can notice this with a simple test of the eye, while parents more often notice it by looking at photos taken with a flash.

The second most common symptom is strabismus.

Other symptoms potentially linked to this type of tumour and to a more advanced stage of the disease are vision problems, reddening of the white part of the eye, pain in the eye or a pupil that does not shrink when exposed to light.

Who is at risk

Retinoblastoma occurs almost exclusively in children under the age of 4-5 years, with approximately 1 case per 18,000-20,000 new births.

Most of these tumours occur during the infant’s first year of life, declining significantly in the 1-4 year range and almost disappearing after the age of 5.

There are no differences in the frequency of the disease between males and females. The risk of retinoblastoma increases if there has already been a family history of the disease, i.e. linked to a mutation in the Rb1 gene passed from parent to child.

Types of retinoblastoma

In the case of retinoblastoma, one can distinguish between hereditary and sporadic forms.

In both cases, the disease is often the consequence of a mutation in the Rb1 gene, which can be inherited from the parents (hereditary form, lowest prevalence) and be present in all cells of the body or appear during growth (sporadic form, 85 per cent of cases) and be detectable only in retinal cells.

Monolateral tumours, which affect only one eye, and bilateral tumours, which affect both eyes, can also be detected.

Monolateral tumours occur at a later age (60 per cent of cases), while bilateral tumours (40 per cent of cases) occur earlier, as mentioned above, often within the first 12 months of life.

Bilateral tumours depend on a constitutional mutation, which may involve all the cells of the body and arise spontaneously in the patient or through inheritance.

Causes and prevention

In order to carry out preventive work, it would be necessary to know the causes that led to the tumour at least to be known to society, at least through statistical data from epidemiological observations.

However, it is rare for tumours to have a single cause.

As a result, in most cases it is almost impossible to identify the origin of a tumour in a patient after the fact using scientific criteria.

It is very difficult in adults, even more so in children, given their very young age.

For mainly sporadic forms, it is currently not possible to define effective strategies for prevention, since medicine has not yet identified modifiable risk factors.

Consequently, it is very important to reiterate one concept: in the case of sporadic retinoblastoma in a child, there is nothing for parents to reproach themselves for in the morning of their child.

Treatment for retinoblastoma

Since this is a very rare tumour, it is important to go to a centre that specialises in the treatment of this particular disease.

Generally, according to statistics, after a diagnosis of retinoblastoma, on average 9 out of 10 children manage to overcome the tumour, without any particular consequences or side effects.

Depending on the patient and the characteristics of the disease, the most suitable therapy will be defined.

Until a few decades ago, surgery was the only option for children with this tumour and involved removing the eyeball and part of the optic nerve.

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Today, with chemotherapy and thanks to other local treatment techniques, demolitive surgery has become less frequent and the eye can be saved in a high percentage of cases.

Chemotherapy is definitely the most powerful therapy against the disease

In addition to systemic therapy, which consists of intravenous administration of the drug, which reaches all parts of the body, intra-arterial or intra-vitreal chemotherapy can also be used.

In the former case the drug is administered directly through the ophthalmic artery, in the latter it is injected into the vitreous body.

Among the most modern localised techniques is certainly also the use of lasers.

With a laser light beam, the blood vessels of the tumour are removed, passing through the eye.

Mention may also be made of cryotherapy, which destroys the tumour using cold.

The choice of different local therapies depends on the extent and location of the tumour in the retina.

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