Retinoblastoma is a disease of the eyes. It is a rare cancer of the retina. It develops in a young child, usually before the age of 5.

What is retinoblastoma?

Définition du rétinoblastome

Retinoblastoma is a type of eye cancer, affecting young children (usually under the age of five).

This type of cancer is rare and can be completely treated (in 95% of cases), when it is taken care of at the earliest.

Retinoblastoma can affect one or both eyes. The diagnosis is usually made before the age of one year if the disease affects both eyes. In the context of a single eye attack, it can be a little later (between 1 and 2 years).

This form of cancer affects the retina, the part of the eye sensitive to light and allowing the detection of colors.

The most atypical signs of the pathology are defined by a whitening of the pupil of the eye, generally called “cat eye reflex”. This whitening of the pupil is particularly noticeable when taking a photo with a flash. Other signs are also to be associated with this type of cancer: a strabismus, eye pain, eye irritation or disturbances and / or loss of vision.

Rapid diagnosis and effective management can restore these effects of cancer. In addition, late treatment can cause this cancer to spread to other parts of the body and can therefore be more serious or even harmful.

Being a type of cancer, this pathology can be the result of genetic mutation (s) in certain cells of the body. In particular, individuals with genetic abnormalities of this type are at greater risk of developing other cancers.

Causes of retinoblastoma

During the early stages of a child’s development, cells in the retina are also developing. This growth is slow and an arrest of it can be identified. In the latter case, a retinoblastoma appears.

In 40% of retinoblastoma cases, it is an abnormality in the genes encoding the development of the retina. This mutated gene can then come from a parent (inherited) or can be modified during the development of the fetus, spontaneously (genetic mutation). The gene responsible for the disease is the gene RB1. The latter plays an important role in cell division, especially of eye cells. A mutation of this gene can then lead to an increase in the cells of the retina, in a too rapid, anarchic and uncontrolled way. These abnormally multiplied cells then form a malignant tumor (causing cancer).

Nevertheless, the 60 % des cas de rétinoblastome restant ne sont pas reliés à une cause spécifique and identified.

Qui est touché par le rétinoblastome

Retinoblastoma is a special and rare type of retinal cancer affecting the young children (generally less than five years old).

Evolution and possible complications of retinoblastoma

Retinoblastoma is a cancer which, in the context of a rapid and effective diagnosis and treatment, is very well treated.

Conversely, late management of this type of cancer can lead to other complications, and in particular a propagation du cancer à d’autres parties de l’organisme.

Symptoms and treatments for retinoblastoma

Symptoms of retinoblastoma

The signs and symptoms of this type of cancer are defined by:

• un retina whitening, particularly visible in a photo taken with a flash;
• un strabismus ;
• un sudden change in iris color ;
• a eye inflammation, causing redness and stinging;
• of the vision disorders even loss of vision.

If your child has these symptoms, then it is advisable to see the doctor as soon as possible.

In very rare cases, the disease can develop at an older age. In this case, the symptoms are defined in particular by swelling in the eyes, loss of vision and eye damage (red and irritable eyes).

Risk factors for retinoblastoma.

Retinoblastoma is a form of cancer affecting the retina of the eye. Its development is the result of abnormalities at the genetic level, in 40% of cases. The gene in question, and implicated in this pathology, is the gene RB1. Genetic abnormalities in this gene can come from the parents (heredity) or can appear as part of fetal development (genetic mutation).

Diagnose and treat retinoblastoma

Once the signs and symptoms associated with this type of cancer have been identified, a quick consultation with the doctor is necessary. He will perform a “reflex” test using a red light, in a room plunged into darkness.

Through an analysis of the light reflection, the doctor can then diagnose the possible presence of cancer. As part of the diagnosis of retinoblastoma, the child is then referred to a specialist for additional examinations.

An ultrasound can be effective in the diagnosis of retinoblastoma.

Treatment of the disease is then directly associated. Chemotherapy may also be prescribed.

Drug management depends on the stage of progression of the disease, and can be intraocular (when the cancer is largely developed inside the eye) or extraocular (in the context of the development of cancer in the periphery of the tissues of the eye).

In 95% of cases, the retinoblastoma is detected is taken care of quickly and therefore allows a rapid and complete recovery.

In the rarer cases of cancer spreading, treatment is much more difficult.

For the treatment of small local tumors, the use of laser can be a solution, or cryotherapy (cold therapy). These two procedures are performed by general anesthesia of the child.

For a larger tumor, radiotherapy may be a solution (therapy using radioactivity). Or, chemotherapy, widely used in the treatment of cancer. Finally, surgery can be a solution in the most extreme cases.