Retinoblastoma

Retinoblastoma

A retinoblastoma is a malignant, mutation-related retinal tumor that occurs primarily in infancy and both sexes are equally affected by it. If diagnosed and treated early, retinoblastoma can be cured in most cases (about 97 percent).

What is retinoblastoma?

Retinoblastoma (also glioma retinae, neuroblastoma retinae) is a malignant (cancerous) retinal tumor that usually occurs in childhood and more rarely in adolescence and is due to a genetic or spontaneous, somatic mutation of immature retinal cells. For what does nba stand for, please visit biotionary.com.

A retinoblastoma typically manifests as a so-called amaurotic cat’s eye, which is characterized by a pupil that glows white in certain lighting conditions because the tumor has already largely filled the area behind the lens.

In some cases, unilateral or bilateral strabismus (squinting), pseudobuphthalmos (enlargement of the eyeball), as well as increased intraocular pressure and chronic eye inflammation are characteristic symptoms of retinoblastoma.

As it progresses, a retinoblastoma can grow into the optic nerve (optic nerve) and the meninges (meninges of the brain) or cause a retinal detachment, which can lead to loss of vision (blindness).

Causes

A retinoblastoma is caused by spontaneous somatic or genetic mutations of both alleles of the so-called retinoblastoma gene or tumor suppressor gene RB1 on chromosome 13. Tumor suppressor genes carry the genetic information to regulate cell growth.

If such a gene is damaged by mutation processes, it loses its ability to regulate and uncontrolled growth of cells such as the retinal cells in a retinoblastoma can occur. A damaged allele is usually inherited and thus the disposition (predisposition) for retinoblastoma.

In order for the ability to regulate to be switched off, both alleles of the tumor suppressor gene must be disturbed, ie the second allele must also mutate spontaneously. Since all cells in the body are affected in this case, a retinoblastoma in this familial form usually occurs on both sides. In the case of a purely somatic retinoblastoma, on the other hand, both alleles in a cell must spontaneously mutate at the same time for the disease to manifest itself. Therefore, a retinoblastoma usually occurs here on one side.

Symptoms, Ailments & Signs

Smaller retinoblastomas usually do not cause any clear symptoms. A possible first symptom is a white spot in the area of ​​the pupil. This so-called cat’s eye syndrome indicates extensive tumor growth inside the eye. It is usually a whitish-yellow discoloration that appears on one or both pupils.

As a result of the increased intraocular pressure, the affected eye can swell, become red and painful. As the tumor grows and spreads to other areas of the eye, it can cause vision problems. The sufferers then see double vision, perceive their surroundings as blurred or suffer from visual field defects.

In extreme cases, there is a risk of blindness in one or both eyes. Accompanying the impairment of the eyesight, a squint becomes noticeable in every fourth patient. With further expansion of the retinoblastoma, it can lead to a protracted inflammation of the eye. In addition to increasing the intraocular pressure, such an inflammation also causes severe pain and other signs of inflammation (such as fever and malaise).

Advanced retinoblastoma can lead to detachment of the retina and thus loss of vision. If the tumor in the eye is treated in a timely manner, complete recovery is possible. In the majority of cases, vision can be preserved and signs of inflammation subside after a few weeks. Untreated retinoblastoma can be fatal.

Diagnosis & History

A retinoblastoma is usually diagnosed in infancy using the amaurotic cat eye and an ophthalmoscopy (reflection of the back of the eye).

With the help of imaging methods (sonography, magnetic resonance imaging, computed tomography), statements can be made about the extent of the retinoblastoma in the surrounding tissue structures. To determine the familial form of a retinoblastoma, blood analyzes are carried out on the affected child and his family members (parents, siblings).

With early diagnosis and early treatment, the prognosis for retinoblastoma is good and the affected eye usually heals completely while retaining its vision. If left untreated, retinoblastoma has a lethal (deadly) course. In the familial form, after successful therapy, other retinoblastomas and various secondary types of tumors (especially bone tumors) can occur.

Complications

In most cases, retinoblastoma can be cured. Especially with early diagnosis and treatment, in most cases there is a positive course of the disease and no special complications. Those affected suffer from this disease primarily from a white erect pupil. This leads to considerable visual problems and also to restrictions in the everyday life of the person concerned.

Squinting can also be promoted due to illness, which can lead to bullying or teasing in young people. Furthermore, if left untreated, retinoblastoma leads to inflammation in the eye and, in the worst case, to complete loss of vision. Especially in young people, vision loss can lead to severe mental health problems or depression. Regular eye exams can easily prevent these symptoms.

Retinoblastoma can usually be removed relatively easily. There are no complications and the eyesight is preserved. In severe cases, however, the entire eyeball must be removed and replaced with a prosthesis. The life expectancy of those affected is usually not negatively affected by the retinoblastoma.

When should you go to the doctor?

Since retinoblastoma is a tumor, it must always be examined and treated by a doctor. This does not lead to self-healing and, in the worst case, to the spread of the tumor throughout the body. However, retinoblastoma can be treated relatively well if it is diagnosed early.

A doctor should be consulted if the affected person suffers from swelling in the eye. The internal pressure of the eye is also significantly increased, which can lead to visual problems. Those affected suffer from double vision or blurred vision. Some sufferers also squint. Since retinoblastoma also affects the entire body, this disease can cause fever or even pain in the eye. If these symptoms occur over a longer period of time and do not go away on their own, a doctor must be consulted in any case. Retinoblastoma is usually treated by an ophthalmologist.

Treatment & Therapy

In the case of retinoblastoma, the specific therapeutic measures depend on the stage of the tumor disease. For example, smaller retinoblastomas can be treated with radiation therapy, in which radioactive iodine or ruthenium is applied directly to the tumor cells during a surgical procedure in order to kill them in a targeted manner.

During laser therapy, the vessels supplying the tumor are destroyed, causing the tumor to die. In addition, thermo- or cryotherapeutic measures are used, through which the tumor cells of a small retinoblastoma die as a result of heat or freezing. With the therapy measures mentioned, the ability to see can usually be preserved.

If a retinoblastoma is already in an advanced stage of growth and there is damage to the affected eye, enucleation (removal of the eyeball) is required to prevent metastasis. The removed eyeball is replaced with a prosthetic eye after the surgical procedure.

When both eyes are involved, an attempt is usually made to preserve vision in one eye by enucleating the eye with the larger tumor while the other eye is treated with laser, radiation, or cryotherapy. If the optic nerve (optical nerve) is already affected and/or metastasis is detectable, additional chemotherapeutic measures are used for retinoblastoma.

Prevention

A retinoblastoma cannot be specifically prevented because the triggering spontaneous mutations cannot be controlled. If there is a family history of eye cancer and if there are symptomatic signs, the child should be examined by an ophthalmologist in order to be able to diagnose and treat a potential retinoblastoma at an early stage. Furthermore, the pediatric check-ups should be used for the early detection of a retinoblastoma.

Aftercare

After the initial treatment of retinoblastoma, follow-up examinations take place at regular intervals. For this purpose, the patient has to go to a clinic. Obtaining the check-ups is extremely important. There is a risk that the retinoblastoma will reoccur and must be treated accordingly. Any subsequent and concomitant diseases may also need to be treated.

The most important goal of retinoblastoma aftercare is the early detection of a recurrence. The sooner the new tumor is diagnosed, the better it can be treated. The same applies to side effects or consequences that may occur as a result of the disease. If there are mental or social problems caused by the retinoblastoma, the aftercare also takes care of them.

As part of the check-ups, the eyes and eye sockets of the affected child are regularly checked. An ophthalmoscope examination is carried out under anesthesia. How many follow-up examinations ultimately have to take place depends on the type of therapy, the age of the child and the genetic findings.

If the retinoblastoma has hereditary causes, regular follow-up examinations are carried out at intervals of three months after the surgical intervention up to the age of 5, which take place in a special center. If chemotherapy has to take place with other forms of treatment such as surgery, cryotherapy, laser therapy or radiation therapy, the examination is usually carried out every four weeks. With this procedure, new formations of the retinoblastoma can usually be detected in good time.

You can do that yourself

Retinoblastoma initially requires close medical treatment. In addition, there are various self-help measures that support medical therapy. Basically, retinoblastoma is a disease that needs to be treated medically. The self-help measures focus on staying physically active and maintaining a light diet.

The child also needs support in everyday life. Due to the limited vision, many activities are no longer possible without help. After an operation on the eye, the patient must not expose the eye to direct sunlight or other stimuli. The medical requirements for wound care must be strictly observed to prevent infections from occurring.

Since it is a serious form of cancer, the affected children and young people often also suffer emotionally. Parents should spend as much time as possible with the sick child and obtain child-friendly information about the disease. Discussions with specialists help the child to better understand the condition. Therapeutic counseling can also be useful for the parents. If the course of the disease is positive, the healthy and active lifestyle should be maintained in the long term. In addition, the child usually needs visual aids, which should be organized at an early stage. Any external changes can be treated with makeup or prostheses. The Children’s Cancer Foundation provides affected families with guidance.

Retinoblastoma