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Explanation of analyzes

Attention: the child has retinoblastoma

Retinoblastoma is a retinal cancer that has a genetic origin and affects mainly young children. This disease seriously threatens the health of the child, and if the diagnosis and treatment are late, then his life. Even if the disease can be defeated at the last stages, there is still a high probability that the baby may lose sight and get a cosmetic defect for the whole life.


What is retinoblastoma

Retinoblastoma is a malignant tumor that develops in the intraocular space from the tissues of the retina. This disease occurs in the vast majority of cases in children under 5 years of age, and regardless of the sex of the child. This happens for the reason that the tumor originates from embryonic tissues. We can say that the disease is laid back in the period of prenatal formation of the child. Such children are born in more than 50% of cases from parents who suffered a disease in childhood, that is, this pathology has a genetic nature.

Schematic representation of retinoblastoma

Retinoblastoma is located on the retina in the intraocular space

Does retinoblastoma occur in adults? Rarely. Specialists with many years of clinical practice note that over the entire period of work they are confronted with isolated cases of histologically proven disease in adult patients. It can be assumed that the cause of the development of retinoblastoma in this case becomes a tumor node, which was formed in childhood, but due to unclear circumstances did not receive its development.

Classification of pathology

Depending on the nature of the growth of tumors, they are divided into two main types - endophytic and exophytic. The first type of tumor has a tendency to germinate into the retina and vitreous body, and the second one penetrates into the intercellular space of the retina, causing its detachment due to fluid accumulation. It is extremely rare for patients to have infiltrative retinoblastoma, leading to degradation of the retina and accumulation of fluid contents in the anterior ocular regions.

Retinoblastoma can be both unilateral (monocular, monolateral), as well as bilateral (binocular, bilateral).

Unilateral retinoblastoma

Unilateral (monolateral) retinoblastoma with a “cat's-eye” symptom (white pupil reflex) visible to the naked eye

Depending on the intraocular localization of the tumor are divided into 5 types:

  • the most favorable are tumors not exceeding 4 mm and located behind the ocular equator;
  • favorable - from 4 to 10 mm, also not beyond the equator;
  • doubtful - neoplasms larger than 10 mm;
  • unfavorable - tumors with lesions of more than 50% of the retina and foci in the vitreous;
  • especially unfavorable - neoplasms with spread to orbital tissues and the presence of distant metastases.

In addition, retinoblastomas are divided into sporadic and hereditary. The first type is usually monolateral, forming a tumor in one eye, and the second is bilateral, that is, it simultaneously affects both organs of vision.

Retinoblastoma is a neoplasm whose cells have a low differentiation, i.e., they are very different from the surrounding healthy tissues. As you know, such tumors are more aggressive, they are characterized by accelerated growth and actively metastasize to the spinal cord and brain and skeleton bones.

Causes of tumor development

As already noted, the main cause of the development of retinoblastoma is heredity. If a child received from parents an altered (mutated) form of a particular gene (RB), then its subsequent mutations are guaranteed to lead to the development of a neoplasm. The proportion of such tumors exceeds 60% of the total number of retinoblastomas.

In many cases, the hereditary forms of this disease are accompanied by other disorders of intrauterine development - “wolf mouth”, heart valve defects, etc.

Sporadic tumors that are found quite rarely, in one way or another, depend on gene mutations that could theoretically be associated with the elderly age of the parents, their residence in environmentally unfriendly regions and employment in hazardous industries. This type of retinoblastoma is registered in schoolchildren and adults.

Elderly parents with baby

The age of parents over 45 carries the risk of gene mutations in the newborn.

There is a myth that since the brown eye gene is dominant, children with this color of the iris are more vulnerable to retinoblastoma. This is not the case, since a tumor is determined by another dominant autosomal gene. Chances of falling ill with retinoblastoma in children with light and dark eyes are distributed almost 50/50.

Symptoms of the disease

Symptomatic picture of retinoblastoma depends on the stage of its development. Based on this principle, doctors distinguish 4 stages of the disease:

  1. Rest At this stage, the obvious manifestations of pathology are practically absent, but upon examination, a symptom of a “cat's eye” - leukocoria is detected. This effect is due to the fact that the tumor shines through the pupil. In addition, among the initial signs may be strabismus and loss of full stereoscopic vision.
  2. Glaucoma. The eye develops signs of inflammation of various membranes - mucous, iridescent, vascular, accompanied by their redness. The patient has tearing and photophobia. Due to the violation of the outflow of internal fluid in the eye, pressure increases, causing pain.
  3. Germination. This stage of the disease is characterized by the development of exophthalmos - the bulging of the eyeball forward out of the orbit due to the extensive spread of the tumor into the surrounding tissues, paranasal sinuses and the space between the soft and arachnoid membranes of the brain. The overgrown tumor in this case is not only threatened with loss of vision, but also represents a serious danger to the life of the patient.
  4. Metastasis. The presence of distant metastases in the liver, spinal cord and brain and skeleton bones. Invasion of retinoblastoma occurs in the vessels of the lymphatic and circulatory system, the optic nerve, and brain tissue. Symptoms at this stage are pronounced:
    • fast fatiguability;
    • intoxication of the body;
    • bone pain;
    • lack of appetite;
    • weight loss;
    • disorders of brain function;
    • severe headaches accompanied by nausea and vomiting;
    • fainting.
A girl suffering from exophthalmos, with parents

Exophthalmos - bulging eyes forward beyond the orbit due to the growth of the tumor

Diagnosis of pathology

When the first symptoms of the disease appear, including the white pupil reflex, pupil dilation with a weakened reaction to light and strabismus (strabismus), the patient should undergo a full ophthalmologic examination:

  • ophthalmoscopy - a detailed study of the fundus with the measurement of the angle of strabismus;
  • Ultrasound of the eye - the detection of a tumor with clouding of the refracting system of the eye;
  • biomicroscopy - microscopic examination of the mucous membrane and almost all segments of the eye - the lens, vitreous body, cornea and iris;
  • tonometry - measurement of intraocular pressure, allowing to detect glaucoma;
  • exophthalmometry - determination of the degree of protrusion or sticking of the eyeball;
  • gonioscopy - the study of the anterior chamber of the eye;
  • non-instrumental vision testing for binocularity using special test images;
  • intraocular biopsy - taking tissue samples for laboratory testing (performed rarely and by absolute indications due to the high risk of cancer cells entering the intraocular space).
Ultrasound of the eye

Ultrasound of the eye can detect a tumor when its media is clouded

As an additional set of surveys to identify distant metastases can be carried out:

  • fluoroscopy of the paranasal sinuses;
  • computed and magnetic resonance imaging (MRI) of the brain;
  • Liver ultrasound;
  • skeletal scintigraphy;
  • lumbar puncture for the analysis of cerebrospinal fluid (cerebrospinal fluid);
  • bone marrow examination.
MRI of the brain

MRI of the brain to determine the extent of the spread of the tumor

An important task of diagnosis is the differentiation of retinoblastoma with the following pathologies:

  • retinal dystrophy;
  • hamartoma;
  • cicatricial lesions of the retina;
  • sarcoma of the eye and orbit;
  • lesions of the eye orbit in leukemia and lymphoma;
  • metastatic neuroblastoma tumors.

The main methods of treatment of the disease

Treatment of retinoblastoma is carried out comprehensively and depending on the stage of development of the neoplasm. The following factors will play a huge role:

  • the extent of the tumor process on the surrounding tissue;
  • the presence of vision on the affected eye;
  • tumor coverage of one or both eyes;
  • the presence of distant metastases, etc.

The complex therapy usually includes:

  • surgery;
  • radiation therapy;
  • chemotherapy.

In addition, in some cases it is advisable to use methods of temperature effects on the tumor (cryo- and thermotherapy), as well as laser coagulation. A competent choice of the means used and an adequate treatment strategy in many cases allows the patient to maintain his sight. In any case, ophthalmologists make every effort to avoid enucleation - removal of the affected eye.


The choice of this method is carried out with extensive invasion of the tumor, increased intraocular pressure and, most importantly, with the inability to restore the missing vision. Removal of the affected eye shows the highest survival rates of patients and does not require subsequent regular painful examinations.


In some cases, it is not possible to avoid surgical removal of the affected eye.

But it is impossible not to take into account the fact that this method is psychologically traumatic for the child and his parents. In addition, it is fraught with considerable cosmetic problems, since the removal of the eye is carried out for young children, who continue to grow the bones of the skull and the formation of the eye orbit, so they will need frequent and repeated prosthetics.

With retinoblastoma germination beyond the limits of the orbital orbit, surgical removal of the tumor is even more traumatic, as additional bone segments of the skull are removed.

Radiation therapy

At the slightest opportunity to preserve vision in the affected eye, radiotherapy is used, since retinoblastoma actively responds to x-ray radiation. The retina, the vitreous body and the anterior segment of the optic nerve (at least 1 cm) should fall into the zone of exposure. During the procedure, special screens are used to protect the lens from clouding. Considering the fact that small children are exposed to radiation, the procedure is performed under general anesthesia using the child's fixation on a special table.


Therapy with cytostatic drugs is used in cases when there is an extensive intraocular lesion with invasion of the optic nerve. For treatment are used:

  • Navelbin (Vinorelbin);
  • Vincristine;
  • Carboplatin,
  • Cyclophosphamide,
  • Doxorubicin (Adriablastin);
  • Pharmorubicin (Epirubicin).

Retinoblastoma responds well to treatment with chemotherapy, but they have a very negative impact on the patient's body. Therefore, if there is such an opportunity, the supply of cytostatics is made directly to the affected area in order to reduce damage to the body.

Gallery: chemotherapy drugs for retinoblastoma

Prognosis of the disease

If the detection of retinoblastoma occurred in the early stages, it is quite possible that the patient will recover completely, while his eyesight and eyes will be saved. The patient's health does not suffer, and he will later be able to lead an ordinary lifestyle. In the initial phase of the malignant process, there is the possibility of conducting successful conservative treatment using gentle therapy methods.


Unfortunately, sometimes it is not possible to avoid enucleation, but it helps to save the child’s life and health.

Enucleation also shows good results in terms of patient survival, but this method of treatment has serious far-reaching consequences, such as loss of vision and a serious cosmetic defect. With the wide spread of the tumor process in the meninges, the paranasal sinuses and the optic nerve, as well as distant metastasis, the prognosis is significantly worse. To reduce the likelihood of developing retinoblastoma, children at risk should be under the constant supervision of a specialist.

Elena Malysheva about retinoblastoma (video)

Retinoblastoma is a dangerous pathology requiring serious attention from parents. At the first signs of the disease, you should immediately consult a doctor and conduct a full examination of the child. The relatives and friends of those children who have a genetic predisposition for this tumor should always be on the alert. It should be remembered that in the early stages of the disease is completely treatable.


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