Retinoblastoma – symptoms, treatment, prevention

Proven content

Retinoblastoma is a malignant tumor that occurs in children. A gene mutation is responsible for its formation, which is why we are talking about its primary course. A characteristic symptom of retinoblastoma is the glare observed on the eye and strabismus. Retinoblastoma can be hereditary and non-hereditary.

What is retinoblastoma?

In other words, retinoblastoma is the most common intraocular neoplasm in children, ranking second in this group of neoplasms right after choroidal melanoma. It is malignant and occurs as a result of a gene mutation, therefore it has a primary course, while if left untreated, it causes metastases and, consequently, the death of the child. Retinoblastoma is characterized by a glare visible on the eye and strabismus. Thanks to modern medicine, it is possible to cure a child and maintain proper eye visibility.

The forms of retinoblastoma

Retinoblastoma can take the form of:

1. hereditary – which occurs as a result of a mutation in the q14 band of chromosome 13. Mutations develop in the sperm or egg before fertilization. For this reason, mutated genes will be found in all of your newborn’s cells. The second mutation occurs in primary cells of the retina. Thanks to better and better diagnostic and treatment methods, it is possible to increase the detection of familial occurrence of retinoblastoma. The hereditary form of the disease appears fairly early and carries the risk that the child will also develop another malignant tumor;
2. non-hereditary – both mutations take place in the retina of the eye, so the retinoblastoma is not passed on to the baby (the cells are not in the reproductive cells, but in the retina).

Retinoblastoma – symptoms

The first symptoms of retinoblastoma usually appear in the first year of a child’s life. However, in the non-hereditary form, symptoms may appear even up to the age of 1. Leukocoria is a symptom of retinoblastoma – it consists in the appearance of a white reflex in the pupil. It is visible, among others in photos taken with a flash or with a specific flash setting during ophthalmological examinations. Another symptom of the disease is strabismus, which may suggest that the tumor has attacked the macula. The remaining, but less frequent symptoms are:

1. discharge of pus or blood into the eye chamber;
2. the presence of white cancer cells in the anterior chamber of the eye;
3. glaucoma;
4. unilateral pupil dilation;
5. different color of the iris in both eyes.

If you suspect your child has retinoblastoma because there have been a family history of such cases or the child has strabismus and the symptom of a white pupil – consult an ophthalmologist as soon as possible. Only a specialist can order the necessary diagnostic tests and determine the correct diagnosis.

Attention! Strabismus in a child always indicates some kind of eye disease, so it should not be taken lightly! It can even be caused by diseases of the optic nerve or retina.

If you notice disturbing symptoms in yourself or in your child, it is worth consulting a doctor. At Medonet Market, you can now buy a specialist consultation along with a package of diagnostic tests for retinal diseases.

Retinoblastoma – diagnosis

The diagnostic methods used in the diagnosis of retinoblastoma include:

1. indirect colonoscopy – is the most popular method used in diagnostics, and thanks to it, a specialist is able to recognize retinoblastoma in over 80% of cases,
2. ultrasound and computed tomography – reveal calcifications within the tumor and allow to detect neoplastic changes outside the eyeball,
3. magnetic resonance imaging – it only helps in the assessment of neoplastic infiltrates located outside the eyeball and possible metastases. In general, MRI is not used in the diagnosis of retinoblastoma, because it is not able to visualize any calcifications around the tumor,
4. bone marrow puncture, blood tests, X-ray of the skull and long bones and analysis of the cerebrospinal fluid – are recommended when metastases are suspected.

Referring to the method of indirect colonoscopy, it is worth mentioning that it also helps to distinguish three types of the retina, namely:

1. exophytic,
2. spilled,
3. endophytic.

Retinoblastoma – treatment

Retinoblastoma is treated primarily with chemotherapy, which reduces the tumor and enables local treatment (irradiation with radioactive elements, xenon and laser photocoagulation). Actually, there is no one specific treatment for retinoblastoma, but there is a division into general and local treatment.

The general methods include chemotherapy and intravenous administration of strong anticancer substances. Chemotherapy is aimed at destroying primary cancer cells, metastases, and cells that are circulating in the blood and lymph. If the administration of antineoplastic substances causes the tumor to shrink, local treatment should be applied (as needed) to completely get rid of the neoplastic changes left after chemotherapy.

Topical treatments for retinoblastoma are based on:

1. laser thermotherapy,
2. cryotherapy,
3. local radiotherapy,
4. laser photocoagulation,
5. removal of the eyeball (i.e. enucleation).

Enucleation, i.e. removal of the eyeball, is performed when chemotherapy has not sufficiently destroyed the tumor or when the diagnosed retinoblastoma is very advanced. Usually, after the removal of the ball, an orbital implant should be used, which is of great importance in children, because it not only improves the mobility of the prosthesis, but also gives a chance for the correct development of the orbit and the equal development of the craniofacial face.

The removed eyeball should always be referred for a histopathological examination, which should determine whether the retinoblastoma is not infiltrating the choroid and the optic nerve. There are rare cases of the tumor having disappeared completely (this can only be the case with smaller lesions). In other cases, despite the destruction of the cancer cells, the connective tissue stroma is present, but without active cancer cells. After larger tumors, calcifications remain.

Successful treatment causes tumor regression. After the treatment in children is completed, regular examinations should be performed by an ophthalmologist (every 3-6 months) until the age of six, and then every year.

Can you completely heal yourself?

The prognosis for retinoblastoma depends on many factors. The severity of the disease, the location of the neoplasm, the resistance of the lesions to treatment, and the existence of secondary neoplasms should be taken into account. Monocular forms are more likely to be cured. In over 90% of cases, there is a chance of saving the patient’s life and maintaining at least a useful ability to see in one eye.

How to prevent retinoblastoma?

Everything is based on genetics, so genetic counseling is an important factor in treatment. As you know, retinoblastoma is inherited autosomal dominantly, so patients with the binocular form of the tumor are likely to give birth to sick offspring (even 50%). On the other hand, patients with a monocular form of the disease have a 4-5% chance of having a sick child. It is very important that doctors inform parents about the risk of having sick children.

Parents who have no history of retinoblastoma and have one child with the monocular form of the disease have a 1% probability of having another child with the disease.

At parents. in whom retinoblastoma did not occur in the family, and have a child with a binocular form of the disease – the probability of giving birth to another sick offspring is 4%.

important: all children with a burdened family history should undergo specialist examinations – two weeks after birth, then every three months in the first year of life, and every four months in the second year of life. In the following years, the child’s condition should be monitored every six months until the age of 1.