Symptoms of Pediatric Retinoblastoma

Symptoms of Pediatric Retinoblastoma include strabismus or crossed-eyes. This condition needs immediate help from an ophthalmologist. Other signs include poor vision, white pupil or change in size of the pupil.

Diagnosis of Pediatric Retinoblastoma

In early detection of kids’ eye cancer, a red reflex examination is performed by a pediatrician. More so, this is done after childbirth, before the baby is discharged from neonatal nursery as recommended by American Academy of Pediatrics. If there is an abnormal red reflex found, the child should be immediately referred to an ophthalmologist for funduscopic examination. After the examination is completed, fundus photography will also be performed to identify the size of tumor and stage. Another procedure to be done is the ophthalmic ultrasound that may show bright spots. MRI is also preferred over CT scan to reduce the risk of exposing the child to develop second cancer and avoid unnecessary radiation. Once pediatric retinoblastoma is confirmed, the patient shall be referred to see an ocular oncologist.

Treatment of Kid’s Eye Cancer

Managing kid’s eye cancer should be tailored-fit to the patient’s case. Factors to be considered include the location of the tumor, size, laterality, and vision prognosis. The patient should be referred to an ocular oncologist who is trained to treat retinoblastoma. Management of pediatric retinoblastoma is rather complex and there are three chosen methods for treatment; enucleation, focal therapy, and chemotherapy. A single treatment or combination may be used depending on the case of the patient and how the child responds to the treatment.

Hereditary

About forty percent of patients suffering from retinoblastoma have genetic defects which lead to multiple tumors affecting one or both eyes. It is commonly known as germline retinoblastoma or hereditary. These children are usually diagnosed before they reach 1 year old. And these patients may pass this condition to their future children. Patients diagnosed with eye cancer have higher possibility of developing other types of cancer.

Non-hereditary

About sixty percent of the patients have non-hereditary pediatric retinoblastoma. Mostly like, these patients have developed tumor in one eye only. On average, this tumor can be diagnosed on two-year-old children.

Retinoblastoma Treatment

Surgery is performed to remove the affected eye in cases of patients having advanced retinoblastoma. If only one eye is affected and is removed, above 90 percent of patients no longer need more treatment thereafter. However, if both eyes are affected, only one eye is removed, and the rest of the treatment will be focused on saving the other eye. If tumor has spread into tissues around the eyes or eye socket, chemotherapy is administered to patients after the surgery.

Chemotherapy uses strong medicines through injection to kill the cancer cells, stop their growth, and avoid growing more cancer cells. Periocular injection is a local treatment to focus on the affected eye. Injection can also be done in the blood stream, for the medicine to protect the body, preventing cancer cells to spread in other parts. Using chemotherapy alone cannot cure this eye cancer, and patients receive another treatment called focal therapy.

Focal therapy is a laser treatment therapy or cryotherapy while the patient is under anesthesia. This kind of treatment may be continued even after chemotherapy has been completed. In some cases, tumors developed in the eyes, if relatively small, are treated with focal therapy only.

Radiation therapy uses X-rays with high-energy or radiation, killing cancer cells or stopping their growth. This type of treatment is only reserved in case patients have not responded well to other therapies. One type is external radiation which uses a machine to deliver X-ray dose. Another is internal radiation which uses needles, wires or tubes to deliver radiation directly to the part of the body affected by cancer.

It is a malignant tumor that develops within the eye’s retina, which is the thin nerve tissue of the eye responsible in sensing light and transmitting images to the brain. This disease may occur at any age, but it commonly occurs during the early stages of childhood, usually before a child reaches the age of five. Retinoblastoma may either occur in only one eye or both eyes, but if left untreated, it may metastasize to other parts of the body.

The Four Stages Of Pediatric Retinoblastoma

In order for the physician to be able to plan the treatment for retinoblastoma, two factors need to be considered to determine the stage of the cancer: the size of the tumor, and its location.

• Intraocular Retinoblastoma. The cancer cells are found unilaterally or bilaterally, but does not affect the tissues surrounding the eyes or other parts of the face.
• Extraocular Retinoblastoma. The cancer cells have started spreading to areas outside the eye. The cells may be confined only to the tissues surrounding the eye, or it may have already spread to other parts of the body.
• Trilateral Retinoblastoma. Sometimes, children with bilateral retinoblastoma may have a third tumor that develops in the pineal gland of the brain (the gland that produces melatonin, which is the sleep hormone). This tumor may cause nerve disorders and must be diagnosed as early as possible, because treating it may require a different approach.
• Recurrent Retinoblastoma. From the name itself, it means that the cancer cells have returned or progressed after treatment has already been done, and it may recur either in the eye or somewhere else in the body.

Common Signs And Symptoms Of Pediatric Retinoblastoma

• White Pupillary Reflex (Leukocoria). The most common early symptom of the disease. It is diagnosed by shining a light in the eye and the color of the pupil is checked. If the color is red (blood vessels in the back of the eye), the eye is normal; but if the color is white or pink, the eye has retinoblastoma.
• Lazy Eye (Strabismus). A condition in which one eye is facing a different direction than the other. Though this may have other possible causes in children, it can also be caused by retinoblastoma.

According to recent studies, 6% of newly diagnosed retinoblastoma were inherited from the previous generation, while 94% were sporadic, which means the family history of the patient is negative for the disease. This is only one of the three different classifications of children’s eye cancer, with the other two being bilateral or unilateral, and heritable or non-heritable.

Other Classifications of Pediatric Retinoblastoma

• Unilateral vs. Bilateral Retinoblastoma. The classification of pediatric retinoblastoma when either only one eye (unilateral) or both eyes (bilateral) are affected. According to research, bilateral retinoblastoma may manifest in children at a much earlier age than unilateral retinoblastoma. And in the total number of cases, two-thirds of pediatric retinoblastoma are unilateral, and only one-third of the cases are bilateral. Unilateral retinoblastoma cases are usually not inherited while bilateral cases are almost always inherited.

• Heritable vs, Non-heritable Retinoblastoma. The classification of pediatric retinoblastoma that identifies whether or not the disease has a chance of being passed on to the next generation. Usually, those patients with retinoblastoma who inherited the disease from their parent/s have a chance of passing it on to their future offsprings, and this covers an estimated 40%
  of all cases of retinoblastoma. On the other hand, 60% of those cases are non-germinal, which means that the disease was acquired sporadically and is at a greater chance of being non-heritable.

Even though a child will inherit the gene from either one or both parents, they will still have a chance of not having the disease but that chance is very slim since their risk of developing retinoblastoma is at 90%.

Preventive and Treatment Measures of Pediatric Retinoblastoma

As of now, there are no other preventive measures for retinoblastoma except for having the child’s eye examined as early as possible for a higher chance of being able to treat the disease and save the child’s vision.

For the treatment, it highly depends on the severity of the disease and whether or not it was inherited genetically. There are both non-surgical and surgical treatment methods for pediatric retinoblastoma.

Non-surgical Methods:

• Chemotherapy. The treatment used to shrink the tumor cells and is usually the first choice of treatment before other options are considered.
• Cryotherapy. Another non-surgical treatment method used for retinoblastoma when the disease is not yet very severe and the patient may be able to keep at least part of their vision. This method is done by freezing the cancer cells, preventing it from metastasizing.
• Laser Therapy. One of the last options used when treating retinoblastoma since it has a high risk of putting damage to healthy cells and tissues, and the possibility of triggering other tumors outside of the eye in cases of genetic retinoblastoma.

Surgical Method:

• Enucleation. Also known as eye removal, is done when the disease is very severe that there is a high risk of it spreading to other parts of the body, or the chance of saving the child’s eyesight is zero.

EYE Screening

Our eyes are the window of our soul. A baby can only first see just a light, second colors, and then third faces. It is how important the eyes are. It is one of the most sensitive and critical part of an infant and it should be given a priority through eye screening. Eye specialists use new technologies to detect eye problems especially in infants who are observed to have difficulties in focusing on something and are easily agitated by too much light. Eye screening can detect genetic or acquired form of eye disease.

Retinoblastoma (Rb) in Children

One type of eye disease is Retinoblastoma. This is a rare disease mostly occur in children ages 2 years old and below and it is commonly known as Pediatric Retinoblastoma. It is where a cancer cell is progressively mutating to kill the healthy cells which develops into a tumor in the retina and will spread further on other parts of the body like the brain, spine, skull, and bone marrow.

Can Retinoblastoma be treated?

Retinoblastoma is treatable but is dependent on how early the cancer is detected. Also, the parents play a very important role in communicating to their doctor or specialist of all family histories and backgrounds especially if the same happened to a relative or a member of the family. If it is already a genetic disease they suspect to be passed-on to their child, early screening like Prenatal Screening for retinoblastoma is done with the parent’s approval of the test. This is a very sensitive kind of test so if the parents decided to discard this option they are advised to do Newborn screening immediately after giving birth. This is to check if gene mutation is inherited by their child and also to monitor the progression of the disease. Regular eye check-ups is then necessary especially if it is a hereditary type of retinoblastoma.

Forms of Retinoblastoma

There are two forms of Retinoblastoma: Heritable and Non-heritable.
Heritable retinoblastoma is when there is a family history that the disease already occurred. Second, if there is a mutation or change in the RB1 gene. In this form, a tumor maybe developed not only in one eye or both eyes are affected.

Non-heritable retinoblastoma developed much later in the child’s life compared with a child that has a heritable form of retinoblastoma. Most cases occur when the child ages 5 years old and below. This is caused by an isolated genetic mutation in which both parents don’t have the said gene. The cancer appears only in one eye of the patient and if treated earlier, have a higher chance of recovery and non-occurrence of the cancer. Physicians still don’t know the cause of a non-heritable retinoblastoma that develops to children.

Treatment for Retinoblastoma

Retinoblastoma treatment is a journey, not only to the child but to the parents as well. There are different ways in treating retinoblastoma. It depends on what stage the prognosis of the doctor is and what type of treatment should the child undergo. Here are some of the tests available for the parents to choose from:

• Eye Screening & Eye Examinations
• MRI (Magnetic Resonance Imaging)
• CT (Computerized Tomography) Scan
• RB1 Gene Test
• Ultrasound Exam of the Eye
• Fluorescein Angiography
• Fine Needle Biopsy
• Cytogenetics and Gene Expression Profiling
• Tests for Metastases
• Chemotherapy
• Focal Therapy

Continuous tests and examinations should be done even after a child undergoes a therapy and was cleared by the doctor since there is a tendency for the cancer to recur. Parents should be very observant of the symptoms of retinoblastoma or other types of cancer in order to address the child’s concerns or to ease the pain or discomforts they feel as early as possible.

This finding combined with other research pinpointing a specific protein (YM155) that prevented the death of cancer cells may be critical in improving retinoblastoma treatment outcomes. Further, these findings could have an impact on cancer treatment in general as doctors and researchers begin to further understand whether these genes and proteins have an impact on the growth and cell death of other types of cancers.

MDM2 and Retinoblastoma Cells

An oncogene is a gene that can assist with transforming a body cell into a cancer cell. It’s been found that MDM2 blocks a specific protein (p53) that will ordinarily cause excess cells generated during unregulated proliferation to die. MDM2 also regulates the protein MYCN that plays a role in promoting cell proliferation – not just in retinoblastoma, but in other child cancers as well.

By learning more about how MDM2 works to regulate MYCN and what causes MDM2 to stop blocking p53, researchers may be able to develop medications and therapies that specifically target these proteins in effective ways. This could improve outcomes for retinoblastoma patients and potentially patients with other types of cancers, as well.

Protein YM155 and Apoptosis

Protein YM155 is another protein that has been found to prevent apoptosis, or cell death. This protein can be a hindrance when treating retinoblastoma, mitigating the effectiveness of chemotherapy and other types of therapies in actually killing the cancer cells. By utilizing therapies that inhibit YM155 when administering treatment for retinoblastoma, researchers have found that the therapies are more effective than when administered alone.

By putting together the findings regarding these particular genes and proteins, researchers and doctors may be able to better understand how retinoblastoma cells survive in patients and ultimately how to better target the retinoblastoma cells with fewer side effects. Researchers may be able to develop medications and therapies that work faster and are more effective in eliminating the cancer and preventing secondary cancers.

Lively Themes and Designs

The children and families that utilize pediatric cancer centers are typically worried about the diagnosis, the upcoming treatments, and the potential prognosis after treatment. To take their minds off of the situation and let kids be kids as much as possible, most cancer centers are bright and lively, with toys and games in main areas. Even individual rooms may be colorful and have fun drawings and other child-friendly attributes.

Play Therapy

To help kids cope with their feelings and work through complex emotions, some cancer centers integrate creative play with other types of treatment. Doctors and therapists may bring props that will get kids laughing and encourage them to talk about their fears and thoughts. This type of therapy has shown to be effective for some patients.

Cutting Edge Treatments

Most pediatric cancer centers are supported by the Children’s Oncology Groupand the National Cancer Institute. This international network of support allows pediatric cancer centers to have access to some of the most cutting edge research, technology, and clinical trials. For pediatric retinoblastoma patients, this may increase the odds that vision will be retained while also combating the cancer.

A Network of Peers

One of the things that many families of children with pediatric retinoblastoma find most helpful about pediatric cancer centers is the network of peers that the center puts families in touch with. The other children and families present at the center are dealing with many of the same struggles, worries, and issues. It can be reassuring and helpful to have someone to talk to that is going through the same life changes and trying some of the same coping techniques.

While dealing with a pediatric retinoblastoma diagnosis can be tough, having top quality care and support from a pediatric cancer center can improve the prognosis and provide peace of mind.

When Enucleation Is Necessary

While no one wants to hear that their child will be losing an eye, enucleation is often the safest way to treat retinoblastoma. Removal of the eye can help to eliminate the cancer before it spreads to other parts of the body. The entire eye will only be removed when the tumor has grown too large to remove from the eye while leaving the eye intact.

In many cases in which enucleation is recommended, the vision has already deteriorated substantially. In these cases, preserving the eye would not preserve the vision.

The Enucleation Procedure

The eye and part of the optic nerve are removed under sedation during the enucleation procedure. The surgery typically takes under one hour and is relatively uncomplicated, so patients are usually allowed to go home after surgery. A ball is placed in the eye socket until the socket heals enough to place a prosthetic.

Prosthetic Eyes

Prosthetic eyes look very realistic and are often difficult to tell apart from natural eyes. While it is not possible to repair vision after an eye has been removed, doctors can usually attach the eye muscles to a prosthetic eye so that all other eye functions including movement, blinking, and tearing can be performed as normal. A prosthetic eye can also help to prevent the eye from appearing sunken in as the bone and tissue of the face grows.

Adjusting to Monocular Vision

If one eye has been removed and vision remains in the other eye, it is known as monocular vision. With monocular vision it may be more difficult to judge depth and distance, the remaining eye may be very sensitive to bright light, and headaches may occur frequently due to eye strain. Since most children that have enucleation performed to treat retinoblastoma are very young, most adapt to these changes easily.

Enucleation of Both Eyes

In some cases, it’s unfortunately necessary to remove both eyes to treat retinoblastoma. In these cases, the child will be totally blind after the surgery. As with single enucleation surgeries, it’s possible to restore all functions besides vision to the eyes and use prosthetics to retain the normal face shape and structure as the child grows. Adjusting to life with a blind child is a shift for the whole family, but most children grow up to be healthy, well adjusted, and capable.

After a retinoblastoma diagnosis, it’s important to work closely with your child’s doctor to determine the best treatment option for your child and family. There are a number of treatment options and combinations available to design a plan that caters to your child’s best possible outcome.

 Surgical Treatment Options

Surgery to remove retinoblastoma tumors is a common treatment option, especially when retinoblastoma only occurs in one eye.

In many cases, the affected eye is removed, which is called enucleation. Enucleation can be successful in curing retinoblastoma and children usually adapt quickly to the change, especially if they are young. The placement of a prosthetic eye can help your child to avoid standing out after the surgery, though there is no way to restore vision after the eye has been removed.

Chemotherapy or Drug Treatment

Chemotherapy is often selected when a child has retinoblastoma in both eyes, as there is a potential to retain vision in the affected eye. Chemotherapy uses medication to kill cancer cells and stop them from multiplying. Chemotherapy is usually administered in phases and an IV or pill may be given depending on the child’s age and the goals of the treatment.

Chemotherapy can have side effects, so you should talk to your child’s doctor about these before opting for chemotherapy. Chemotherapy may also be most helpful when combined with other treatments.

Cryotherapy to Freeze Cancer Cells

Cryotherapy is a treatment that works by freezing cancer cells. Cryotherapy is also called cryosurgery when the cold temperatures are used to destroy cells. Cryotherapy works best for children that have small tumors that are near the front of their eyes and isn’t usually used when there are multiple tumors throughout the eyes.

Radiation Therapy

Radiation therapy uses x-rays and other forms of radiation to kill cancer cells. In very young children, radiation therapy can interfere with growth and development, so radiation therapy might not be best for retinoblastoma if there are still other options that can be explored. Nausea, vomiting, and headaches are also common side effects of radiation therapy, which can unsettling and affect feelings of well being.

External beam radiation therapy has been linked to recurrence of tumors later in life for children with the hereditary form of retinoblastoma. Radioactive plaque therapy, which delivers radiation directly to the eye instead of to the body as a whole, doesn’t carry the same risks of recurrence but may still have side effects.

Participating In Clinical Trials

Since cancer in kids is somewhat rare and every case can be different, clinical trials are often used to treat retinoblastoma. Clinical trials can be helpful when other treatment methods haven’t been effective. Participating in a clinical trial can allow your child access to some of the newest treatments available.

When considering possible treatment methods for retinoblastoma, asking your child’s doctor the following questions may help you to narrow down the treatment that will work best for your child and family:

• What are the common side effects of each treatment method?
• Could retinoblastoma treatment side affects exacerbate other existing conditions?
• How long does treatment usually take?
• Could this treatment affect growth and development?
• What is the rate of cancer recurrence with this treatment method?
• Will this treatment work well with infants/toddlers/young children?

Throughout the process of retinoblastoma treatments and beyond, receiving several different types of support can help create the best prognosis for the child while also helping to uphold the emotional wellbeing of the whole family.

Receiving Treatment at Pediatric Cancer Centers

Most kids who are diagnosed with cancer are treated at pediatric cancer centers, which treat patients from birth to ages 18 or 19, with some extending treatment to 21 years. In addition to highly specialized and customized treatments, these centers offer clinical trials held by the Children’s Oncology Group (COG).

Developmental Support for Kids

Since pediatric retinoblastoma is usually diagnosed and treated before kids reach the age of five, the cancer treatments and vision problems can affect development. Kids may fall behind in learning because of the time taken up with testing and treatments, or can have trouble reaching milestones because of vision limitations.

Special education services and individualized education programs (IEPs) can help kids catch up and excel at their own pace. By law, schools must provide IEPs for every child who receives special education services so that there’s a plan in place for each child’s development.

These programs can make a huge difference for patients’ lives, helping them feel confident and competent in spite of the challenges presented by their diagnosis.

Emotional Support and Connections

As social and emotional creatures, one of our most therapeutic experiences is being able to connect with others who share our struggles, hopes, and understanding. Such is a major benefit of these centers for coping children and families.

Most hospitals offer some type of support group where families of children with cancer can connect. For children who are old enough, having an understanding companion to talk to about fears and treatments can be immensely comforting.

For families that would rather connect over the internet, online support groups are also available. Online support groups like R-Blastoma and Retinoblastoma Survivors Support Group offer info about research and clinical trials, as well as non-clinical discussions about aspirations, concerns, and daily life.

Finding Support at Home

When pediatric cancer enters the picture, many other aspects of normal life are often neglected. Parents struggle to take on the additional pressures while juggling all of the expected tasks like work, chores, and self care. Neglecting any one thing can add strain and potentially hinder everyone’s wellbeing.

Seeking assistance with home chores from extended family members or hired services can help to ease the pressure and restore balance to the household. It can also be helpful to talk about experiences daily and address new concerns within the family, and with key work contacts and other important individuals.