Retinoblastoma

A Retinoblastoma is a malignant, mutation-related retinal tumor that occurs primarily in infancy and which affects both sexes equally frequently. With early diagnosis and therapy, retinoblastoma is curable in most cases (around 97 percent).

What is retinoblastoma?

As Retinoblastoma (also Glioma retinae, Neuroblastoma retinae) is a malignant (malignant) retinal tumor that usually occurs in children and less often in adolescence and is due to a genetically determined or spontaneous, somatic mutation of immature retinal cells.

A retinoblastoma typically manifests itself in what is known as an amaurotic cat's eye, which is characterized by a pupil that lights up white in certain light conditions, as the tumor already largely fills the area behind the lens.

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

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

causes

A Retinoblastoma is causally attributable to 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 that regulates cell growth.

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

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

Symptoms, ailments & signs

Smaller retinoblastomas usually do not cause clear symptoms. A possible initial 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. Usually it is a whitish-yellow discoloration that appears on one or both pupils.

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

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

Advanced retinoblastoma can detach the retina and cause loss of vision. If the tumor in the eye is treated in a timely manner, complete cure is possible. In the majority of cases, the eyesight can be preserved and the signs of inflammation decrease after a few weeks. An untreated retinoblastoma can be fatal.

Diagnosis & course

A Retinoblastoma is usually diagnosed in toddler age using the amaurotic cat's eye and as part of an ophthalmoscopy (reflection of the fundus).

With the help of imaging methods (sonography, magnetic resonance tomography, 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 tests are carried out on the affected child and his / her family members (parents, siblings).

With an early diagnosis and start of therapy, the prognosis for retinoblastoma is good and the affected eye usually heals completely while maintaining the vision. If untreated, retinoblastoma has a lethal (fatal) course. In the familial form, further retinoblastomas and various secondary types of tumors (especially bone tumors) can occur after successful therapy.

Complications

In most cases, retinoblastoma can be cured. Particularly with early diagnosis and treatment, in most cases the disease progresses positively and no particular complications occur. With this disease, those affected primarily suffer from a white upright pupil. This leads to considerable visual problems and also to restrictions in the everyday life of the person concerned.

Strabismus can also be favored 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. In young people in particular, loss of vision can lead to severe psychological complaints or even depression. Regular eye examinations can easily prevent these symptoms.

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

When should you go to the doctor?

Since retinoblastoma is a tumor, it must always be examined and treated by a doctor. There is no self-healing and, in the worst case, the tumor can spread throughout the body. However, retinoblastoma can be treated relatively well if diagnosed early.

A doctor should be consulted if the person concerned suffers from swelling of 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 veiled vision. Some of those affected also squint. Since retinoblastoma also affects the entire body, this disease can lead to a fever or even pain in the eye. If these symptoms appear over a long period of time and do not go away on their own, a doctor must be consulted in any case. Treatment of retinoblastoma is usually done by an ophthalmologist.

Treatment & Therapy

The specific therapeutic measures depend on you Retinoblastoma on the stage of the tumor disease. For example, smaller retinoblastomas can be treated with radiation therapy by applying radioactive iodine or ruthenium directly to the tumor cells during an operation in order to kill them in a targeted manner.

As part of laser therapy, the vessels supplying the tumor are destroyed, causing the tumor to die. In addition, thermal or cryotherapeutic measures are used, through which the tumor cells of a small retinoblastoma die off as a result of heat or icing. With the therapy measures mentioned, eyesight can usually be preserved.

If a retinoblastoma is already at an advanced stage of growth and the affected eye is damaged, enucleation (removal of the eyeball) is necessary to prevent metastasis. The removed eyeball is replaced by an eye prosthesis after the surgical procedure.

If both eyes are involved, an attempt is usually made to preserve the vision of one eye by enucleationing the eye with the larger tumor while the other eye is treated with laser, radiation or cryotherapy. If the optic nerve (optic nerve) is already affected and / or metastasis can be determined, chemotherapeutic measures are also used in retinoblastoma.

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prevention

One Retinoblastoma cannot be specifically prevented, as the triggering spontaneous mutations cannot be controlled. If there is a family history of eye cancer or if there are symptomatic signs, the child should be examined by an ophthalmologist so that a potential retinoblastoma can be diagnosed and treated at an early stage. Furthermore, the pediatrician check-ups should be used for the early detection of retinoblastoma.

Aftercare

After the first treatment for retinoblastoma, follow-up examinations will take place at regular intervals. For this purpose the patient has to go to a clinic. It is extremely important to attend the check-ups. There is a risk that retinoblastoma will recur and require appropriate treatment. Possible secondary and concomitant diseases may also need to be treated.

The most important goal of retinoblastoma follow-up care is the early detection of a relapse. The sooner the new tumor is diagnosed, the better it can be treated. The same applies to side effects or sequelae that can occur due to the disease. If there are emotional or social problems caused by retinoblastoma, the aftercare will also take care of them.

As part of the check-ups, the affected child's eyes and eye sockets are checked regularly. 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 a special center every three months after the operation up to the age of 5. If chemotherapy with other forms of treatment such as surgery, cryotherapy, laser therapy or radiation therapy must take place, the examination is usually carried out every four weeks. With this procedure, new formations of the retinoblastoma can usually be recognized 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 condition that must be treated by a doctor. The self-help measures focus on staying physically active and following a gentle diet.

The child also needs support in everyday life. Due to the limited eyesight, 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 specifications regarding wound care must be strictly observed so that no infections occur.

Since it is a serious cancer disease, the affected children and adolescents often suffer mentally. Parents should spend as much time as possible with the sick child and obtain child-friendly information about the illness. Conversations with specialists help the child to better understand the condition. Therapeutic advice can also be useful for parents. If the disease progresses positively, a healthy and active lifestyle should be maintained in the long term. In addition, the child usually needs a visual aid, which should be organized early on. Any external changes can be treated with make-up or prostheses. The Children's Cancer Foundation gives affected families an orientation.