What is Retinoblastoma?

Cancer begins when cells begin to experience abnormal growth. Cells in any part of the body can become affected and spread to other body organs. For example, retinoblastoma is cancer that begins in the retina.

A retina is the back section of the eye. It is the most common type of eye cancer in young children. It is quite rare for children to be affected by any other type of cancer in the eye. To understand how this cancer works, you will need to understand how the eye functions.

The Eye

The main section of the eye is called the eyeball. It is filled with a jelly called vitreous humor. The front of this ball has a lens that contains an iris. This iris allows light into the eye while the lens helps to focus it on the retina. The retina is the back layer of cells in the eyeball. In addition, it has special nerve cells that are designed to receive light.

These cells send the signal to the brain through the optic nerve. The optic nerve runs from the back of the eyeball. The signal is sent to the part of the brain known as the visual cortex. It processes the image, which allows you to see it.

How Does Retinoblastoma Develop?

The eyes are usually among the first organs to develop in the womb. During the early development stages, the eyes contain cells known as retinoblasts. These cells divide and fill up the retina. At some point, the cell division stops, and they begin to develop into mature cells. It is quite rare for anything to go wrong during this cell division.

However, in some cases, the retinoblasts never stop dividing. The result is that it leads to cancer called retinoblastoma. The domino effect that causes the development of this cancer is quite complex. However, it can mostly be traced to the mutation of the RBI gene.

The RBI gene is supposed to stop the retinoblasts from multiplying. However, the mutation stops it from fulfilling its function.

Depending on which part of the gene is affected, a person can develop either of two types of retinoblastoma:

  • Congenital

In about a third of all kids with retinoblastoma, the faulty RBI gene is present when the child is born. It can be found in all cells within the child’s body. There is no history of cancer in most of the kids in the family. Only a quarter of the kids with the faulty gene inherits it from their parents.

In the rest, the gene mutates while the child is still in the womb. The reasons are not known. When a child has congenital retinoblastoma, cancer develops in both eyes. Additionally, the child has a high chance of developing cancer in other areas of the body as well. For a few kids with this cancer, it will also cause cancer development in the brain. The tumor usually appears in the pineal gland of the brain. Those who survive getting retinoblastoma have a high chance of getting other types of cancer later in life.

  • Non-Hereditary Retinoblastoma

Cancer will only appear in one eye in about two-thirds of the children with retinoblastoma. It is not known what leads to this development. A child with non-hereditary cancer will only have to deal with a tumor in one eye. It usually appears when the child is a bit older. A child with this cancer does not suffer from a high risk of getting other types of cancer.

How it Spreads and Grows

If the cancerous tumors are not dealt with, they can grow and fill the eyeball. Cells could break off the retina and float through the jelly to other sections of the eye. The result is that it leads to more tumors. If they block the channels within which fluid in the eye flows, it can cause pressure in the eye. It can lead to glaucoma for the victim. Most retinoblastomas are found and treated in good time.

However, it can spread to other body parts if it is not found early enough. For example, the cells can pass through the optic nerve to reach the brain. Once it escapes outside the eyeball, it can reach the lymph nodes, the liver, the bones, and the bone marrow.


In the US, cancer affects over 350 people every year. Globally, there are about 8000 new cases every year. Although it almost seemed untreatable a century ago, there is more than 1000 publication today on cancer. 99% of kids who get this cancer in the west will survive it.

90% of all kids will retain normal vision. However, this success was not achieved with ease. It has been a long journey to get to this stage. Retinoblastoma is widely reported to have been recognized and detailed by Petrus Pawius in 1597. However, sculptures in Peru suggest that the disease was known as early as 2000 years ago.

James Wardrop was the first to enucleate the disease in 1809. Cases of the disease were first reported in the US in the 1800s. By 1869, the survival rate for cancer was reported at 5%. By the end of the 1800s, survival by children had risen to about 17%. At the time, the only means of treatment were exenteration and enucleation. The earliest evidence that was successfully treated with radiation for the cancer was in 1903.

The physician based in Texas reported that he had managed to save the lives of six children, but not their eyes. Over the next 20 years, improvements were made. At the time, ophthalmologists and not pediatricians treated retinoblastoma. It is the only form of childhood cancer that ophthalmologists manage. That fact is even more surprising when you realize that it is only cancer with the highest survival rate among kids. The success in managing this type of cancer can be attributed to developments in medicine. The development led to the first salvaging of an eye that had cancer in 1921.

In 1926, the first successful treatment with sight retention was reported. The 1930s attracted talented physicians who advanced the development of techniques for dealing with cancer. In addition, the evolution of anesthesia methods allowed the doctors more time to examine the eye.

In the US, it took the cooperation of physicians and radiologists to develop better techniques to save the eye without complications. The corporation led to the lowering of the radiation dosage from 20,000 rads to 3500 rads. Meanwhile, Henry Stallard in England was exploring the use of radiation and coming to the same conclusions. Henry’s set of cobalt plaques were the forerunners of today’s brachytherapy. However, his plaques were only introduced in the US in 1969.

In the 1950s, there were two other developments in the treatment of retinoblastoma. First, Robert and Reese created a classification scheme for cancer. It was not a great staging system, but it allowed physicians from all over the world to compare the success of different techniques. One of the first attempts to use focal treatment to deal with retinoblastoma was by using diathermy.

In the 1930s, the technique was introduced with some success. Although the technique was abandoned due to problems with loss of vision, it led to the development of some techniques that aided in cancer treatment.

In the meantime, something good was happening in Germany in the 1950s. An ophthalmologist in Germany developed photocoagulation. It was quite a success, with results becoming obvious by the end of 1959. Other developments made treating cancer easy. For instance, diagnostic imaging was improved quite a lot. The use of ultrasound allowed physicians to diagnose the tumors better. The use of chemotherapy to deal with cancer also became quite widespread. In addition, improvements were made to the use of chemotherapy, reducing some of its toxicity.

Risk Factors

A risk factor is anything that increases the chances of you getting retinoblastoma. Each cancer has its own risk factors, and retinoblastoma is no different. However, the major risk factors that play a major role in other cancers, including weight, activity, diet, and tobacco use, are not so influential in this cancer. This is because retinoblastoma mainly affects children who have not had enough time to be exposed to these other risk factors.

  • Genetics

In ninety percent of all kids that develop this cancer, they have had someone in their family with cancer. It is, in fact, quite difficult to explain how children with no family history of eye cancer develop this cancer. In such an instance, both parents are encouraged to go for screening. They may have the faulty gene for retinoblastoma without being aware. If the family has a history of eye cancer, the child could develop cancer within 28 months after birth. Newborn babies need to get a dilated eye exam by their ophthalmologist. The exam should be done while the child is still in the nursery. When the cancer is passed from mother to child, it usually appears in both eyes.

If a parent has had retinoblastoma in one eye, about 15 percent of his or her children will get cancer. Of those, 85 percent will get cancer in both eyes. If the parent has had cancer in both eyes, almost half of his or her children will get retinoblastoma. Tumors may be seen at birth, or they may be detected before the child is born. However, many of these children do not have a tumor at birth. In our experience, if a child develops retinoblastoma, he or she will begin to develop tumors by 28 months but can continue to form them until the age of seven.

  • Faulty Chromosome 13

Although it is not known how people get retinoblastoma, it is known that cancer develops because a piece of chromosome 13 is missing or faulty. Chromosomes are what control cell division in the retina. In children who develop cancer, the cells continue to divide unchecked. In about 40 percent of all cases, the abnormality is only in eye cells. In 60 percent of all cases, the abnormality exists in all body cells. If the parent has the faulty chromosome and they do not develop cancer, there is about a 50 percent chance of their kids being born with cancer in both eyes.

  • The Age

Children who are below three years have the highest chance of getting retinoblastoma. Most congenital retinoblastoma is found within one year of birth. The non-hereditary type is found within one or two years.

If the child makes it past the first three years of life without cancer, there is a good chance that they will never develop retinoblastoma.


Retinoblastoma occurs because of gene mutations. For example, the RBI gene is a protein suppression gene that controls the production of cells in the eye. When the gene fails, it can cause the production of cells to become ceaseless. Therefore, people who have the most risk factors of contracting cancer are the ones that should be screened.

The common risk factors are:

  • Low economic status.
  • Those with a faulty chromosome 13.
  • People with a family history of cancer.

Children that are born in a family with a history of retinoblastoma need to be screened by an ophthalmologist after birth. The screening should go on for the next six years at regular intervals. After that, tests should be conducted about twice a year. If the parent notices that the child does not have the normal red pupillary reflex, they should take the child for screening. The dense network of blood vessels usually causes the red reflection that is seen. A white reflection replaces the red reflection in people with cancer. The reflection can be partial or complete.

It is seen in many children, which is an indication that they have cancer. Besides the red reflex, the physician check for light reflected by the cornea. In a normal eye, the location of the reflection in both eyes will be identical. The reason is that both eyes move together as they look at the object. However, in a good amount of kids with cancer, the light reflects asymmetrically, which indicates that the eyes have a problem. During the screening, visual function is also examined. It usually entails dilating the pupils.

Another type of eye exam could include fluorescein angiography and a slit lamp exam. If retinoblastoma is suspected, the examination proceeds to an MRI or ultrasound scan of the eye. Sometimes, a bone scan may be conducted. It checks for the development of cancer in the bones. It is done using radioactive material that is injected into the body. It tends to collect around cancerous cells. The child’s parents may also need to undergo a genetic test for the faulty RBI gene.

However, that will not be necessary if the patient has a heritable form of cancer. If screening is done early enough, retinoblastoma is cured 99% of the time. However, the development of other types of cancer is not unheard of.

Consequently, a lifelong follow-up of other types of cancer is needed to keep the person safe. Additionally, such a person should not smoke or engage in lifestyle choices that increase their risk. Kids who have had retinoblastoma in one eye need to be examined for cancer in the other eye. It usually happens within the first three years of life.

An MRI scan should be conducted every six months until the child is five years old. Genetic screening of young children for the faulty gene can help to identify which children could develop cancer even before they are born.


Retinoblastoma can affect one or both eyes. It typically occurs in children less than five years old. At this time, you need to check intensely for any symptoms of cancer. It could help to save their life.

  • Leukocoria

The most obvious symptom of the illness is the lack of red reflex that occurs when light is shone on a child’s eyes. The reddish tinge is caused by the reflection of light over the dense network of blood cells on the retina. Instead of the red reflection, a white reflection is usually seen. It is quite easy to detect with an ordinary flashlight. The exam person will see white pupils in both or one eye. If a room is deemed and the light shone on the eyes, the effect is the same.

The test is quite effective. 60 percent of all people with cancer will produce this result.

  • Strabismus

It is the appearance of a squint when the child looks at an object. The eyes should be of the same size and move in tandem. Consequently, the light that comes from the child’s cornea should not cross. To make the test more effective, one eye can be covered when the light is shone on the other. If one of the eyes remains unresponsive, it shows that the child may have cancer. It is present in 20% of all kids with cancer.

If you notice this symptom at home, seek clarification from your doctor.

  • Inflammation

In about 105 cases, some form of inflammation of the affected eye can be seen. The result is that the eye becomes red in color. The redness usually persists for a long. Additionally, the inflammation could spread beyond the eye to the skin close to the eye.

  • Other symptoms

Many other symptoms appear in the case of retinoblastoma. For instance, the eye could bulge and appear bigger than the other appears. In addition, the pupil and iris could appear cloudy, the irises could be of different colors, the pupils may be of different sizes, the child could experience double vision, eye cataracts could be present, and jerky oscillations of the eye.

Other symptoms may include bone pain that results from metastasis. People who contract retinoblastoma need to be monitored for life. Those who have had cancer during childhood have a high chance of contracting it within the next five decades of their life. It is thus important to go for extensive screening for cancer every year, possibly twice a year.

Additionally, the person needs to lead a healthy lifestyle. However, with the right choices in life, a person could still live a cancer-free life.

Diagnosis and Stages

The stage of cancer is how far it has spread within the body. The prognosis for the child with this cancer depends on how far cancer has spread. The stage is also important in determining the type of treatment to be used. An eye exam determines the stages for retinoblastoma. All the tests are collectively used to establish the stage of cancer. The staging system is the standard method used by the cancer care team to determine how far cancer has reached. The staging helps to determine if it is possible to save the child’s vision. In addition, it is used to determine how certain successful types of treatment are going to be.

When determining the treatment type to use, doctors divide cancer into two main groups:

  • Intraocular retinoblastoma – cancer that is within the eye.
  • Extraocular retinoblastoma – cancer that has spread beyond the eye.

In the west, most retinoblastoma is diagnosed while it is still in the eye. Thus, the staging system is mainly used for cancer that is in the eye. It is important to note that it can be successfully treated in children no matter what stage cancer has reached. It is the newest staging system for retinoblastoma. The system accounts for all the new data that has been generated in the recent past. Most doctors now use this system. The retinoblastoma is divided into five groups.

The groups are lettered A to E. It is based on how likely it is that the eye can be saved.

Group A

It consists of small tumors, which are less than 3 millimeters in diameter. They have not spread beyond the retina to structures such as the optic disc or the foveola.

Group B

All the other tumors that are larger than 3mm or smaller but are near important structures such as the foveola and optic disc but still within the retina.

Group C

There are visible tumors that have spread under the retina and into the jelly-like substance, which fills the eyes.

Group D

There are large tumors that have widespread seeding in the vitreous humor. The retina may detach from the back of the eye in some cases.

Group E

The tumors are large, extending well close to the front of the eye. As a result, the eye may be bleeding, and it could even lead to glaucoma. It may also have other features that make it hard to attempt to save the eye.

Other systems can be used in countries where the retinoblastoma has spread beyond the eye. These systems are especially useful in places where the early diagnosis of cancer is not possible.

The American Joint Commission on Cancer developed a system that can be used in economically undeveloped nations. It relies on three key points of data:

T: The Size

The size of the main tumor and how far it has grown within and outside of the patient’s eye

N: Nodes

Whether cancer has reached the lymph nodes or not, these are small beads of white cells where cancers sometimes spread.

M: Metastasis

Whether cancer has spread to distant sections of the body, such as the long bones or the bone marrow, the system is great for describing how severe the retinoblastoma has become outside the eye. Unfortunately, however, the system is rarely used in the US.

Treatments and Drugs

There exist numerous therapies for dealing with retinoblastoma. In over 90% of cases, children are cured and can retain their vision. The treatment option chosen by the physician is based on various factors. They include the side effects, the preferences of the family, and the patient’s health. Since the healthcare plan will include treatment for side effects, choosing the best treatment option matters.

  • Surgery

Surgery entails getting rid of the cancerous tumor and some of the nearby healthy tissue. For example, if a child has cancer in only one eye, enucleation, which involves eye removal, can be used effectively.

However, if the patient has retinoblastoma in both eyes, the doctor has to determine that no other treatment options are viable. Although enucleation leads to some vision loss, most children will recover and adapt over time. If you are worried about how your child will look without an eye, you do not have to. Cosmetic surgery has come a long way. The child is usually fitted with an artificial eye in the space that was left after the operation. Close family can tell the eye is not real.

However, strangers will have a hard time doing that.

  • Radiation therapy

Radiation treatment entails the use of x-rats at high energy to destroy cancerous cells. The radiation is usually delivered using an external beam of radiation. The most precise method of delivering radiation is using a proton beam. It decreases the frequency and severity of the dose of radiation that the patient receives. Radiation can also be delivered internally using a disc that contains radiation. The treatment consists of various treatments over a set period. Drowsiness, vomiting, nausea, and headache are common side effects of radiation treatment.

It has some risks, such as affecting the growth of bone around the area that received the dose of radiation.

  • Cryotherapy

This surgery uses liquid gas, mainly nitrogen, to freeze cancerous cells and kill them. Treatment may need to be done more than once.

  • Laser therapy

This treatment uses a slim beam of heat to shrink small tumors. It can be used alone or with cryotherapy.

  • Chemotherapy

This treatment entails using drugs to kill cancer cells. The treatment consists of certain cycles over a specific period. The drugs can be delivered intravenously or through pills. All small tumors can be removed from the body when used with other treatment options. The drugs often used for chemotherapy are carboplatin, etoposide, and vincristine. If the cancer is too prevalent, a combination of the drugs may be recommended.

  • Transplantation

Stem cell rescue may be used when the retinoblastoma has spread well beyond the eye. It entails transferring highly specialized cells into the body of the sick patient. It allows the body to continue producing its own healthy cells.

Coping and Support

Cancer and the treatment that follows usually have major side effects. Besides the treatments to slow, stop, or get rid of cancer, there is also a need to relieve the patient’s suffering. This type of treatment is known as supportive care. It involves helping the person with their emotional, physical, and social needs. The care focuses on relieving the symptoms, improving the person’s quality of life, and supporting the patient’s family.

The treatment works best when it is started early. If the patient and their family begin receiving treatment for cancer and for reducing the side effect early, it is more likely to bear fruit. The treatment may include medication, a change in diet, relaxation techniques, and other types of therapy. To deliver palliative care effectively, you will need to speak to a doctor.

They could direct you to specific experts to help with the care. For instance, the family may need to go for psychological canceling. Discovering that a child has cancer of any kind is never easy. It could lead to emotional trauma, which could affect the ability of the parent to deliver care at home to the child.

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