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Retinoblastoma: all about this eye disease in children Symptoms and Treatment

Retinoblastoma is an eye disease. It is a rare cancer of the retina. It develops in young children, usually before their fifth birthday.

Definition of retinoblastoma

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

This type of cancer is rare and is treated in its entirety (in 95% in case), when it is supported at the earliest.

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

This form of cancer impacts the retina, the part of the eye that is sensitive to light and allows the detection of colors.

The most atypical signs of the pathology are defined by a whitening of the pupil of the eye, generally called “reflex of the eyes of cats”. This whitening of the pupil is particularly remarkable when taking a picture, with a flash. Other signs are also associated with this type of cancer: strabismus , eye pain, irritation of the eyes or disorders and / or vision loss.

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

As a type of cancer, this pathology can be the result of genetic mutation in certain cells of the body. Individuals with genetic abnormalities of this type are particularly at risk of developing other cancers.

Causes of retinoblastoma

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

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

Nevertheless, the remaining 60% of retinoblastoma cases are unrelated to a specific and identified cause .

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Who is affected by retinoblastoma

Retinoblastoma is a unique and rare type of retinal cancer affecting young children (usually under the age of five).

Evolution and possible complications of retinoblastoma

Retinoblastoma is a cancer that, in the context of a diagnosis and a fast and effective management, is treated very well.

On the other hand , late management of this type of cancer can lead to other complications , including the spread of cancer to other parts of the body.

Symptoms and treatments of retinoblastoma

The symptoms of retinoblastoma

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

  • bleaching of the retina , particularly visible in a picture taken with a flash;
  • squint ;
  • sudden change in the color of the iris ;
  • an inflammation of the eye , causing redness and tingling;
  • Of blurred vision or loss of vision.

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

In very rare cases, the disease can develop at a later age. In this case, the symptoms are particularly defined 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 that affects the retina of the eye. Its development is derived from abnormalities at the genetic level, in 40% of cases. The gene in question, and implicated in this pathology, is the RB1 gene . Genetic abnormalities on this gene may come from parents (heredity) or may occur in the context of fetal development (genetic mutation).

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Diagnose and treat retinoblastoma

Once the signs and symptoms associated with this type of cancer have been identified, prompt consultation with the doctor is necessary. This one will carry out a test “reflex” using a red light, in a room plunged in the dark.

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

Ultrasound can be effective in the diagnosis of retinoblastoma.

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

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

In 95% of cases, retinoblastoma is detected is taken care of quickly and thus allows a quick and complete recovery.

In the rarest case of the spread of cancer, the treatment is then much more difficult.

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

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

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