The development of malignant neoplasms occupies a leading position in relation to mortality among many countries of the world. Only now this serious problem affects not only those people who have already crossed the threshold of old age, certain types of tumors can also be found among children. And retinoblastoma is just a striking example of this.
This disease carries a serious danger to the child's body. And if even the diagnosis and concomitant treatment are not carried out on time, then the life of the child becomes at risk. But even if you still manage to prevail over the disease, then the risk is high that the baby will lose his sight. A cosmetic defect cannot be avoided.
What is retinoblastoma?
Our eyes are distinguished by a complex structure, Mother Nature took care of this. In this case, the organs of vision have a protective (fibrous) membrane that prevents the negative influence of a number of external factors. Thanks to the optical system, we recognize the objects around us, distinguish their shades, texture and many other parameters.
Before delving into the essence of retinoblastoma (the photo will be lower along the text) - a small theoretical digression. For the perception of light, the retina is covered on the outside by the sclera. Moreover, this shell covers the entire eyeball. Before light reaches the retina, it passes through the cornea, lens and vitreous. A visible image of objects is formed due to special cells - rods and cones. Inside them there is a special substance, due to which the incident light contributes to the appearance of an electrical impulse. And it reaches the brain through the optic nerve, where the input signal is processed.
The term "retinoblastoma" should be understood as a malignant neoplasm that develops in the pigment layer of the retinal epithelium. Usually its presence causes certain inconvenience:
- Loss of vision.
- Increased pressure inside the eye cavity.
- The spread of metastases to other internal organs, including the brain.
In most cases, children are at risk of developing retinoblastoma symptoms in the early years of their life. At the moment, for every 10-13 thousand newborns, there is one with such a pathology. Moreover, of all cases of detected malignant neoplasms among children under the age of 15 years, specifically cases with this tumor account for 5%.
Varieties of pathology
There are a variety of forms and stages of the manifestation of pathology. Moreover, the classification consists of several factors.
So, depending on the causes of the appearance of the tumor, the pathology can be considered:
- Inherited - when several relatives had this disease in the family.
- Sporadic is an extremely rare case, the causes of which have not yet been elucidated.
Based on the coverage area, retinoblastoma also has the following forms:
- Monolateral or monocular - only one eye is affected.
- Bilateral or bilateral retinoblastoma is the development of pathology in relation to two eyes at once.
- Trilateral - in this case, the oncological process, in addition to the pigment membrane of both eyes, affects the pineal gland in the center of the brain.
The nature of the growth of the neoplasm, which may be:
- Endophytic - affects the structures of the eyeball, orbits and neighboring tissues.
- Exophytic - the tumor is concentrated on the outer layers of the retina, which can cause its detachment.
- Monocentric - a tumor with a single node is characteristic of the tumor.
- Multicentric - we are talking about many active foci.
As for the stages of the disease, the TNM system is taken into account here. In this case, the Latin letter T implies the following:
- T1 - the tumor affected no more than a quarter of the pigmented membrane of the eye.
- T2 - in this case, retinoblastoma occupies from a quarter to 50% of the total area of the retina.
- T3 - more than half of the area of the retina is already involved in the pathological process, and due to the retinoblastoma gene, the tumor begins to grow into neighboring structures of the eyeball.
- T4 - The neoplasm has affected the entire eyeball, orbits and adjacent tissues.
If the letter N is present in the designation, this indicates that the pathology has affected nearby lymph nodes:
- N0 - the tumor has not yet penetrated into the nearest lymph nodes.
- N1 - damage to the cervical, submandibular nodes.
The last letter M indicates the appearance of metastases in remote areas in the body:
- M0 - no metastases.
- M1 - secondary foci of the disease are formed.
Retinoblastoma refers to the type of tumor in which the altered cells have a significant difference from healthy surrounding tissue. And such neoplasms are more aggressive in nature, they have accelerated growth. As for metastasis, the repeated foci of pathology affect not only the spinal cord, brain, but also the bone structure.
Retinoblastoma: photos and causes
The root cause of the appearance of retinoblastoma lies in a hereditary predisposition. And if the child got a mutated RB gene, then subsequent mutations will inevitably contribute to the formation of the tumor. And such cases account for up to 60% of the total number of patients with such a diagnosis.
But in addition to this, the hereditary factor can lead to other violations of the intrauterine development of the fetus: cleft palate, heart valve defects, and more.
The development of sporadic tumors is an extremely rare case, but at the same time, everything here also depends on gene mutations. From a theoretical point of view, this may be due to the age of the parents (45 years or more), unfavorable environmental conditions. In addition, the activities of many people are associated with work in hazardous industries. This kind of pathology usually develops among primary school students and adults.
There is one myth that brown-eyed children are at increased risk for retinoblastoma. In reality, this is not entirely true, and it can be said that retinoblastoma is determined by the dominant autosomal gene.
Symptomatology
The clinical picture among children is largely determined by the size of the neoplasms and their localization. A characteristic sign of pathology is leukocoria, which is popularly called cat-eye syndrome. Its manifestation can be seen if the tumor has grown to a fairly large size or with retinal dissection. In this case, the neoplasm creeps out behind the lens, and it can be easily seen through the pupil.
Depending on the stage of the pathology, the symptoms in each case are different:
- Stage T1 (rest) - there are still no expressed signs, however, during the examination you can notice leukocoria, or cat's eye (as noted above), which is due to the transmission of the tumor through the pupil. Also, patients can observe strabismus and the loss of full stereoscopic vision.
- Stage T2 (glaucoma) - a good specialist in photo retinoblastoma in children can detect all the signs of the inflammatory process of the membranes of the eye (mucosa, iris, vascular), which is accompanied by their redness. In addition, lacrimation and photophobia are observed. And due to the fact that the outflow of internal fluid is impaired, pressure increases in the eye, which, in turn, leads to pain.
- Stage T3 (germination) - in this case, the tumor has already acquired extensive dimensions, and the eyeball begins to protrude forward, beyond the orbit. In addition, the tumor affected the surrounding tissues, paranasal sinuses, including the space between the soft and arachnoid membrane of the brain. Not only is there a danger in relation to vision loss, but there is also a threat to the patient's life.
- Stage T4 (metastasis) - repeated foci of a retinoblastoma tumor can be in the liver, bone tissue, back, or brain. The spread of metastases is carried out through the circulatory and lymphatic systems of the body, the optic nerve, and brain tissue. In this case, the symptoms are much greater: it is severe intoxication, and weakness, and the appearance of vomiting, headache.
Often, the presence of a tumor can be determined even before the neoplasm leaves the orbit. Therefore, the most important thing here is to timely diagnose.
Pathology Diagnosis
Tumor development can be detected even at the earliest stage of retinoblastoma, when the symptoms still do not fully manifest themselves. During the examination of the patient, the ophthalmologist can determine the size of the neoplasm, even when they are very small. White pupils in the photo (from exposure to the flash), strabismus, decreased vision - all this is a serious reason for contacting a specialist for diagnosis. It is enough for him to look at the photo, and the symptoms of retinoblastoma will be immediately detected.
Particular attention should be paid to those families in which there were cases of such a disease in close relatives. Care must be taken to monitor the health of their children, as they are in an increased risk zone.
Currently, the following diagnostic methods are used to identify pathology:
- MRI Here you can evaluate the size of the tumor and their number.
- CT Computed tomography can determine how badly the eye is affected.
- Bone marrow puncture Its need is to understand whether bone tissue is affected by cancer cells.
- Ultrasound of the peritoneum. Allows you to confirm or deny the presence of repeated foci of pathology in the body.
- X-rays of light. It is done for the same purpose as ultrasound.
- Blood and urine tests. The study allows you to evaluate the functionality of internal organs.
Using the above methods, the doctor makes a diagnosis based on the symptoms of retinoblastoma. But in addition to this, specialists can conduct additional examinations. These include the measurement of intraocular pressure, the study of eye structures in more detail with a slit lamp, diacinoscopy, ultrasound biometry, and the use of radioisotopes.
With the help of x-ray of the eye orbits, precipitation of calcium salts in the affected areas against the background of tissue death (necrosis) can be detected. As a rule, this happens in the last stages of the development of pathology.
Pathology treatment methods
Depending on the stage of retinoblastoma, an appropriate course of treatment is prescribed, moreover, in a complex manner. But here it is worth considering a number of several factors. First of all, it is necessary to find out the tumor coverage of neighboring tissues, whether there are metastases in the body, etc.
As a rule, complex treatment includes the following:
- Surgical intervention.
- Radiation therapy.
- Chemotherapy.
You can usually get rid of the neoplasm with the help of surgery, which is the main treatment for retinoblastoma. Previously, eye enucleation was performed for this purpose, but now, thanks to modern innovative solutions of medicine, other effective methods have become available.
Surgical treatment
As mentioned above, surgery is the main treatment for retinoblastoma. A direct medical indication for its conduct is an extensive invasion of the neoplasm, increased intraocular pressure, the inability to return lost vision.
Currently, the following methods of surgical intervention are used:
- Photocoagulation.
- Cryodestruction.
- Enucleation.
During photocoagulation, tumor cells are destroyed by a laser. The operation to eliminate unilateral or bilateral retinoblastoma is performed using local anesthesia and is easily tolerated by many patients.
Cryodestruction is essentially a process of freezing cancer cells. This is a modern retinoblastoma disposal technology that uses liquid nitrogen as a refrigerant.
Enucleation is the removal of the affected eye. Such an operation is prescribed in the case when the neoplasm has affected almost all (or completely) the eyeball. Patient survival is quite high.
Regarding the latter, it can be noted that, despite the high efficiency of such an operation, it represents a serious psychological trauma not only for the child, but also for his parents. In addition, the procedure leaves behind a pronounced cosmetic defect, due to which there may be problems.
The fact is that in children the process of the formation of the orbit of the eye and the growth of the bones of the skull are still ongoing. In this regard, young patients need frequent and multiple prosthetics.
The situation is slightly worse when the signs of retinoblastoma indicate an advanced stage of pathology, in which the tumor went beyond the orbit of the eye. The operation in this case is even more traumatic, since there is a need to remove the bony segments of the skull.
Features of radiation therapy
If there is even the slightest opportunity to preserve the organ of vision, then radiotherapy is applied to the affected eye. Due to the fact that the tumor is able to actively respond to x-ray radiation, this treatment method is fully justified. At the same time, the retina, vitreous body and the anterior segment of the optic nerve (at least 1 cm) should be in the area of influence of the apparatus.
Thanks to special protective screens, lens opacities can be avoided, thus reducing the risk of this method of retinoblastoma therapy. This, in turn, minimizes the harmful effects of therapy on the body.
And if we consider that patients are usually young children, such an operation is performed using general anesthesia with the child fixed on a special table.
The use of chemotherapy
Here, cytostatics are usually used, which are prescribed for extensive intraocular damage with invasion of the optic nerve. Treatment is carried out using the following drugs:
- "Navelbina" ("Vinorelbina");
- Vincristine
- "Carboplatin";
- Cyclophosphamide;
- Doxorubicin (Adriablastin);
- Pharmorubicin (Epirubicin).
The effectiveness of chemotherapy is quite high, and the treatment is also fully justified. But at the same time, the use of these drugs negatively affects the patient. In this regard, if this possibility exists, then the supply of cytostatics is carried out directly in the affected area of retinoblastoma. This reduces the degree of damage to the human body.
What are the forecasts?
If the pathology was detected at the initial stage, then the probability of the patient's full recovery is still a reality. Moreover, vision and the eyes themselves will be intact. The patient’s health is also not in danger, and he can lead his usual lifestyle. The possibility of treatment using conservative and gentle methods can also be considered a plus in the initial phase of the disease.
If the oncological process affects the membranes of the brain, sinuses, as well as the optic nerve, including distant metastasis, the final prognosis is not so joyful.
Therefore, to reduce the risk of retinoblastoma, those children who are at risk should be under the constant supervision of a specialist. Only in this way can retinoblastoma of the eye be detected in a timely manner, which will allow treatment to begin immediately.