Retinoblastoma( from the Latin word "retina" - "retina") refers to the malignant neoplasm of the retina arising in young children from embryonic tissues. The peak incidence is observed in children who have reached the age of two. By the age of five, there are no cases of retinoblastoma, which, as a rule, do not remain.
This disease is equally affected by children of both sexes. In adult patients, the incidence of retinoblast development is extremely rare. Equally rare is the birth of healthy offspring in parents who have suffered this disease in childhood.
The types and stages of the retinoblastoma of the eye
Retinoblastoma is divided into two types:
- Hereditary( congenital);
- Sporadic( non-hereditary).
In the hereditary form of retinoblastoma, the mutation affects all cells of the body, especially the tissues of both eyes. That is why congenital retinoblastoma most often affects just two eyeballs and is characterized by extremely rapid multifocal growth due to the presence of several inflammatory foci.
Hereditary retinoblastoma, as a rule, develops in children with multiple developmental defects( cleft palate, heart defects, cortical hyperostosis).Such children have a predisposition to the appearance of cancerous tumors( for example, such as osteogenic sarcoma).
In sporadic( accidentally occurring) retinoblastoma, caused by a mutation in one of the genes, only one eyeball is affected. It is revealed much later, but it is treated better.
The photo shows retinoblastoma of the left eye in the child
. Analyzing the process of tumor propagation in tissues, specialists distinguish two stages:
- Intraocular( endophytic). At this stage, the cancerous tumor, expanding, captures the entire eyeball. Tumor growth leads to increased intraocular pressure, retinal detachment, the development of glaucoma, and the inevitable development of complete blindness. All this is accompanied by painful pains, nausea, the periodic occurrence of vomiting, and sometimes the formation of persistent anorexia.
- Extracular( exophytic). The next stage is characterized by the release of a cancerous tumor beyond the eyeball with the capture of the sclera and the vascular membrane. Using the optic nerve, cancer cells get inside the skull and, spreading through the central nervous system, metastasize to the regional lymph nodes. Often cases when in one eyeball there are neoplasms of both stages of growth.
Causes of
- More than 60% of retinoblastomas are congenital and genetically conditioned, as almost half of the children suffering from it were born from parents who had the same disease in their childhood. The majority of congenital retinoblastomas are detected after thirty months after the birth of the child.
- Sporadic retinoblastoma is not so common. The reasons for their occurrence are still unknown. Risk factors for their occurrence are considered to be the advanced age of the parental couple, the influence of unfavorable environmental factors, the participation of parents in the metallurgical industry, unhealthy diet that provokes mutations in the chromosomes of sexual and retinal pigment cells. Tumors of this species develop in older children, but in adults it is extremely rare.
Symptoms of
The clinical course of retinoblastoma has a number of consecutive stages:
- The first, called the stage of rest, is distinguished by the absence of subjective symptoms. The most striking manifestation of retinoblastoma is leukocoria( commonly referred to as the "cat's eye" symptom) - the white pupil effect that results from the transmission of a fairly large tumor through the pupil. At this stage, the patient loses first the central, then - stereoscopic( binocular) vision and often gets strabismus. This bright sign of retinoblastoma, well visible to others, often appears after the small patient has lost his sight.
- During the glaucoma stage in the eyeball, a number of inflammatory phenomena occur( photophobia, hyperemia, lachrymation), resulting in the development of iridocyclitis, an extremely painful lesion of the ciliary body of the eye and its iris. Violation of the outflow of the intraocular fluid leads to an increase in intraocular pressure and severe pain( until this time intraocular neoplasms do not cause suffering to small patients).The development of secondary glaucoma means that retinoblastoma passes into the next stage.
- Its specialists call the stage of germination. At this stage, the tumor provokes the formation of exophthalmos( the effect of bulging eyes), spreads over the soft tissues of the orbit and, destroying its walls, germinates in the paranasal and subarachnoid space.
- At the final stage, retinoblastoma metastasizes to other organs and tissues: lymph nodes, tubular bones, head and bone marrow, liver, skull bones. The ways of spreading the tumor are the optic nerve, the soft medulla, lymph nodes and blood. At the stage of metastasis, there is a sharp deterioration in the overall condition of a small patient: he has severe weakness, intoxication, pronounced cerebral symptoms( with nausea, vomiting and severe headaches).
Diagnosis of
Small patients are most often examined under anesthesia methods:
- computed tomography( CT);
- ultrasound examination( ultrasound) of the abdominal cavity;
- magnetic resonance imaging( MRI);
- radiographs of the lungs( to exclude or confirm the presence of metastases);
- laboratory tests of blood and urine( to assess the performance of internal organs);
- if necessary, perform spinal puncture and examine the red bone marrow( by fine needle aspiration biopsy).This is necessary in order to detect or exclude the damage to the brain tissue.
Methods of treatment
In the treatment of retinoblastom, preference is given to methods of conservative therapy that do not complicate and allow preserving the organ of vision and the ability to see.
However, the possibility of such treatment remains only in the early stages of the disease, when the tumor is small.
Cryotherapy
Cryotherapy( cryodestruction) gives a good result in the treatment of a small tumor that appeared in the anterior part of the eye retina. The procedure consists in freezing the tumor tissue with a special probe applied to the external surface of the sclera.
Photocoagulation
This technique is very effective when exposed to small tumors that appear in the posterior part of the retina.
Operative
- If the tumor has reached a large size, has led to the development of glaucoma and irretrievable loss of vision, the only way out of the situation is the operation of enucleation( removal) of the eyeball. The next stage of treatment is glasoprosthetics.
- When spreading retinoblastoma inside the skull, perform the exenteration of the orbit: the removal of the periosteum and the entire contents of the ocular cavity.
Radiotherapy
Radiation therapy combined with surgical and organ-preserving methods, gives good results. Applications of radioactive substances can be performed by both remote( external) and contact radiation.
Chemotherapy
Treatment with antitumor drugs is prescribed in the following cases:
- before photocoagulation and radiotherapy procedures to reduce tumor size;
- after an operation to remove the eyeball, to finally destroy the residual cancer cells;
- for systemic therapy of late stages of retinoblast with already expressed metastases;
When exposed locally to retinoblastoma, intraocular chemotherapy methods( involving the administration of drugs into tissues located around the eyeball) and intra-arterial chemotherapy( medications are introduced into the artery through which blood enters the eyeball) are used.
Prognosis and prevention
- Correct diagnosis and early detection of the tumor, usually ends with a persistent cure for the baby. Save him the visual organs and full vision will help photocoagulation, radiation therapy and cryodestruction.
- Enucleation of the eyeball gives good survival.
- An unfavorable prognosis is provided by: bilateral retinoblastoma, its germination into the optic nerve and invasion of the sclera.
Prophylaxis of retinoblastoma suggests:
- Mandatory treatment of families with anamnesis, burdened by cases of hereditary retinoblastoma, to the service of medical genetic counseling.
- Regular( at least four or six times a year) examinations of children from such families by a specialist ophthalmologist. Due to this precaution, retinoblastoma can be detected at the earliest stages of appearance, which allows choosing the tactics of safe and gentle treatment, and also contributes to complete recovery and preservation of full vision.
Eye prostheses
If the eyeball has been removed during surgery, infants are taught to wear a prosthesis. His constant presence is necessary in order to prevent deformation of the face in the process of child's growth( the bones surrounding the empty eye socket will lag behind in growth).In addition, the absence of a prosthesis will lead to the wrapping of the eyelashes inside the empty eye socket and the subsequent irritation of the mucous membranes.
The procedure for establishing and extracting eye prostheses is quite simple:
- By pulling the upper eyelid with the fingers of the left hand, the nurse takes the prosthesis with her right hand and inserts its upper edge into the upper fold of the eyelid. After this, pulling the lower eyelid, inserts the lower part of the prosthesis.
- Withdrawing the denture, you must first pull the lower eyelid with your left hand and, under the lower edge of the special wand, gently push the product out.
Prosthetics has at once three purposes:
- functional;
- cosmetic;
- psychological.
Modern technologies and materials allow making prostheses, practically indistinguishable from real eyes. Models of modern orbital prostheses( thanks to the connection with the muscles of the eye) very skillfully imitate the physiological movements of the eyeball.
To make the similarity to the healthy eye even more striking, a lens is placed on the surface of the prosthesis, exactly repeating the shape, size and color of a healthy iris. Thanks to this product, the baby will not feel like a cripple.
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