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 occur among children. And retinoblastoma is just a prime example of this.
This disease is a serious danger to the child's body. And if diagnostics and concomitant treatment are not carried out on time, then the very life of the child becomes at risk. But even if you still manage to defeat the disease, there is a high risk that the baby will lose his sight. A cosmetic defect is simply inevitable.
What is retinoblastoma?
Our eyes are complexstructure, mother nature herself took care of this. At the same time, 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. The retina, which is covered on the outside by the sclera, is responsible for the perception of light. Moreover, this shell covers the entire eyeball. Before light reaches the retina, it passes through the cornea, lens, and vitreous. And the visible image of objects is formed by special cells - rods and cones. Inside them there is a special substance, thanks to which the light that has fallen contributes to the occurrence of an electrical impulse. And it already 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 his presence causes some inconvenience:
- Loss of vision.
- Increased pressure inside the eye cavity.
- Spread of metastases to other internal organs, including the brain.
In most cases, children are at risk for the symptoms of retinoblastoma in the first years of their lives. At present, for every 10-13 thousand newborns, there is one with such a pathology. However, out of all casesdetected malignant neoplasms among children under the age of 15, specifically cases with this tumor account for 5%.
Varieties of pathology
There are a variety of forms and stages of manifestation of pathology. In this case, the classification consists of several factors.
So, depending on the causes of the tumor, pathology can be considered:
- Hereditary - when several relatives had this disease in the family.
- Sporadic - an extremely rare case, the causes of which have not yet been clarified.
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 is also taken into account, which can be:
- Endophytic - structures of the eyeball, orbits and adjacent tissues are affected.
- Exophytic - the tumor is concentrated on the outer layers of the retina, which can cause retinal detachment.
- Monocentric - the tumor is characterized by development with one node.
- Multicentric - we are talking about many active foci.
As for the stages of the course of the disease, the TNM system is taken into account here. Whereinthe Latin letter T means the following:
- T1 - the neoplasm affected no more than a quarter of the pigment membrane of the eye.
- T2 - in this case, retinoblastoma occupies from a quarter to 50% of the entire retinal area.
- T3 – more than half of the retinal area 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 affected the entire eyeball, orbits and neighboring 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 the nearest lymph nodes.
- N1 - damage to the cervical, submandibular nodes.
The last letter M indicates the appearance of metastases at distant sites in the body:
- M0 – no metastases.
- M1 - secondary foci of the disease have been formed.
Retinoblastoma refers to the type of tumor in which the altered cells have a significant difference from the he althy surrounding tissue. And such neoplasms are more aggressive in nature, they have accelerated growth. As for metastasis, repeated foci of pathology affect not only the spinal cord, brain, but also the bone structure.
Retinoblastoma: photo and causes of occurrence
The root cause of retinoblastoma lies in hereditary predisposition. And if a child gets a mutated RB gene, then its subsequent mutations will inevitably contribute totumor formation. And such cases account for up to 60% of the total number of patients with this diagnosis.
But besides this, the hereditary factor can lead to other disorders of intrauterine development of the fetus: cleft palate, heart valve defects, etc.
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 type of pathology usually develops among elementary school students and adults.
There is one myth that children with brown eyes are at increased risk for retinoblastoma. In reality, everything is not quite so, and it can be said that retinoblastoma is determined by a dominant autosomal gene.
Symptomatics
The clinical picture among children is largely determined by the size of neoplasms and their localization. A characteristic sign of pathology is leukocoria, which is popularly called the cat's eye syndrome. Its manifestation can be seen if the tumor has grown to a fairly large size or with retinal dissection. The neoplasm in this case crawls 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:
- StageT1 (rest) - there are no pronounced signs here yet, however, during the examination, leukocoria, or a cat's eye (as noted above), can be noticed, which is due to the transmission of the tumor through the pupil. Patients may also experience strabismus and loss of full stereoscopic vision.
- Stage T2 (glaucoma) – a good photo specialist of retinoblastoma in children can detect all signs of inflammation of the eye membranes (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 in the eye increases, which, in turn, leads to pain.
- Stage T3 (germination) - in this case, the tumor has already acquired extensive dimensions, and the eyeball begins to bulge forward, beyond the orbit. In addition, the tumor affected the surrounding tissues, the paranasal sinuses, including the space between the pia mater and the arachnoid. Not only is there a danger of loss of vision, but there is also a threat to the life of the patient.
- Stage T4 (metastasis) - Recurrent retinoblastoma tumors may be in the liver, bone, back, or brain. The spread of metastases is carried out through the circulatory and lymphatic systems of the body, the optic nerve, and brain tissues. In this case, there are much more symptoms: severe intoxication, weakness, and the appearance of vomiting, headache.
It is often possible to determine the presence of a tumor even before the tumor leaveseye area. Therefore, the most important thing here is to diagnose in a timely manner.
Diagnosis of pathology
It is possible to detect the development of a tumor even at the earliest stage of retinoblastoma, when the signs do not yet 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 flash), strabismus, decreased vision - all this is a serious reason to contact a specialist for a diagnosis. He just needs 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. It is necessary to carefully monitor the he alth of your children, as they are at high risk.
Currently, the following diagnostic methods are used to detect pathology:
- MRI. Here you can estimate the size of the tumor and their number.
- CT. Computed tomography allows you to determine how badly the eye is affected.
- Bone marrow puncture. Her need is to understand if the bone tissue is affected by cancer cells.
- Ultrasound of the peritoneum. Allows you to confirm or refute the presence of repeated foci of pathology in the body.
- X-ray of lungs. Done for the same purpose as an ultrasound.
- Blood and urine test. 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, the use of radioisotopes.
With the help of radiography of the eye orbits, it is possible to detect the precipitation of calcium s alts in the affected areas against the background of tissue death (necrosis). As a rule, this happens in the last stages of the development of pathology.
Methods of treating pathology
Depending on the stage of retinoblastoma, an appropriate course of treatment is prescribed, and in a complex way. But here it is worth considering a number of factors. First of all, it is necessary to find out the tumor coverage area of neighboring tissues, whether there are metastases in the body, etc.
As a rule, complex treatment includes the following:
- Surgical intervention.
- Radiation therapy.
- Chemotherapy.
Usually, surgery can be used to get rid of the tumor, which is the main treatment for retinoblastoma. Previously, eye enucleation was performed for this purpose, but now, thanks to modern innovative medical solutions, other effective methods have become available.
Surgery treatment
As mentioned above, surgery is the main treatment for retinoblastoma. A direct medical indication for its implementation is an extensiveneoplasm invasion, increased intraocular pressure, inability to regain lost vision.
Currently, the following methods of surgical intervention are used:
- Photocoagulation.
- Cryosurgery.
- Enucleation.
In photocoagulation, tumor cells are destroyed by a laser. Surgery to repair unilateral or bilateral retinoblastoma is performed using local anesthesia and is easily tolerated by many patients.
Cryodestruction is essentially the process of freezing cancer cells. This is a modern technology for getting rid of retinoblastoma, which 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) of the eyeball. Patient survival is quite high.
Regarding the latter, it can be noted that, despite the high efficiency of such an operation, it is 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 formation of the eye orbit and the growth of the bones of the skull is still ongoing. In this regard, young patients need frequent and repeated prosthetics.
The situation is a little worse when the signs of retinoblastoma indicate an advanced stage of the pathology, in which the tumor has gone beyond the orbit of the eye. Operationin this case, even more traumatic, since it becomes necessary to remove the bone segments of the skull.
Features of radiotherapy
If there is even the slightest possibility of preserving 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-rays, this method of treatment is fully justified. At the same time, the retina, the vitreous body and the anterior segment of the optic nerve (at least 1 cm) should be in the zone of influence of the apparatus.
Thanks to special protective screens, clouding of the lens can be avoided, thus reducing the danger of this method of treating retinoblastoma. This, in turn, minimizes the harmful effects of therapy on the body.
And given that patients are usually young children, then such an operation is performed using general anesthesia with fixing the child on a special table.
Use of chemotherapy
Here, usually, cytostatics are used, which are prescribed for extensive intraocular lesions with invasion of the optic nerve. The treatment is carried out using the following drugs:
- "Navelbina" ("Vinorelbina");
- "Vincristina";
- "Carboplatinum";
- "Cyclophosphamide";
- "Doxorubicin" ("Adriablastina");
- "Pharmorubicin" ("Epirubicin").
Efficiency of chemotherapyis 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 such a possibility exists, then the supply of cytostatics is carried out directly into the area affected by 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 a complete recovery of the patient is still a reality. Moreover, vision and the eyes themselves will be intact. The he alth of the patient is also not in danger, and he can lead his usual way of life. The advantage of the initial phase of the disease can also be considered the possibility of treatment using conservative and sparing techniques.
If the oncological process affects the membranes of the brain, paranasal sinuses, as well as the optic nerve, including distant metastasis, then the final prognosis is not so good.
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 immediate treatment.
