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«Home Pediatric Cancer Care Childhood Cancers & Treatments Treatment Information by Disease Retinoblastoma If your child, adolescent, or young adult ...»

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Home Pediatric Cancer Care Childhood Cancers & Treatments Treatment Information by Disease

Retinoblastoma

If your child, adolescent, or young adult has been diagnosed with retinoblastoma or is suspected to have retinoblastoma, Memorial

Sloan-Kettering Cancer Center is ready to help. Our team of doctors, nurses, and other healthcare professionals is dedicated to

providing the most-effective, personalized treatment, while preserving the best possible quality of life.

About Retinoblastoma Retinoblastoma, the most common type of eye tumor seen in children, occurs most often in young children before the age of five and affects boys and girls in equal numbers. The tumor may be in one eye (referred to as unilateral retinoblastoma), or in both eyes (bilateral retinoblastoma).

Retinoblastoma tumors originate in the retina, the light-sensitive layer of the eye that enables sight. About 75 percent of retinoblastoma cases are unilateral, and 90 percent of retinoblastoma patients have no family history of the disease.

Retinoblastoma occurs most often before the age of five. There are approximately 350 new diagnosed cases per year in the United States, making it the seventh most common pediatric cancer.

Most retinoblastoma patients have a white pupil reflex or leukocoria instead of a normal black pupil or red reflex. This abnormal white pupillary reflex is sometimes referred to as a cat’s eye reflex. Many times the parent is the first one to notice the cat’s eye reflex.

This white pupillary reflex may also be indicative of another disorder and does not always indicate retinoblastoma. An ophthalmologist can determine the correct diagnosis.

A crossed eye or strabismus is the second most common symptom of retinoblastoma. The child’s eye may turn towards the ear (exotropia) or towards the nose (esotropia).

Children with retinoblastoma may also have the following symptoms:

a painful red eye poor vision inflammation of tissue surrounding the eye an enlarged or dilated pupil different colored irises (a condition known as heterochromia) failure to thrive (trouble eating or drinking) extra fingers or toes (a condition known as hexadactylism) malformed ears delayed development or retardation More than 95 percent of children treated for retinoblastoma in the US are cured. In addition, more than 90 percent of patients retain at least one eye and more than 80 percent of children treated keep 20/20 vision.

Diagnosis & Treatment at Memorial Sloan-Kettering Memorial Sloan-Kettering Cancer Center’s experts on the retinoblastoma team can diagnose and treat children with this disease.

Whether you come to us as soon as retinoblastoma is suspected or after a relapse of retinoblastoma treated elsewhere, we tailor our innovative treatments for each patient, based on the characteristics of your child and of his or her disease.

Learn more about how we diagnose and treat retinoblastoma.

Diagnosis At Memorial Sloan-Kettering, our ophthalmic oncologists have performed more than 12,000 examinations for retinoblastoma.

Risk Factors Ninety percent of all children who develop retinoblastoma are the first one in their family to have eye cancer. When retinoblastoma is passed from parent to child, the child usually develops retinoblastoma in both eyes.

Treatment We customize the treatment of retinoblastoma based on the age of a child, the involvement of one or both eyes, and whether or not the cancer has spread to other parts of the body.

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Ophthalmic Exam The ophthalmic examination is best done under general anesthesia. Some very young and older patients can be examined without general anesthesia. If you have any questions about whether your child should have anesthesia, ask your ophthalmologist, anesthesiologist, or nurse.

The ophthalmologist views the retina with an indirect ophthalmoscope (a lighted instrument used to perform a magnified examination of the eye) to determine the presence of tumors. A metal clip known as a lid speculum is placed between the eyelids to help keep the child's eye open.

During the examination, the ophthalmologist uses a Q-tip or a metal scleral indenter (which looks like a pen with a flattened tip) to move the most forward portions of the retina (the sensory membrane located in the back of the eye) into view. Because the child is under anesthesia and his or her eye is numbed, they experience little or no discomfort from this process.

Fundus Drawings and Photographs A drawing or photographs, called fundus (defined as the larger part of a hollow organ that is farthest away from the organ's opening) drawings or photos, are made of the tumors. The fundus drawing and photos serve as maps. Future examinations will be based on these original drawings and photographs; new drawings and photographs may be made at each follow-up visit.

Ultrasound examination, which uses sound waves to penetrate and outline structures in the eye, can confirms if retinoblastoma tumors are present and can determine their thickness or height. Black and white Polaroid photographs of the ultrasound images may be taken.

Testing for Metastatic Retinoblastoma An examination called MRI (Magnetic Resonance Imaging) — which uses magnetic waves to image the eyes, the orbits, and the brain — may be performed to determine if there is any tumor outside the eye or in the brain.





Children who are diagnosed with retinoblastoma are also seen by a pediatric oncologist. The pediatric oncologist determines whether there is cancer anywhere else in the child's body. A physical examination and sometimes blood tests, a spinal tap, and a bone marrow biopsy are performed.

Risk Factors Ninety percent of all children who develop retinoblastoma are the first one in their family to have eye cancer. When retinoblastoma is passed from parent to child, the child usually develops retinoblastoma in both eyes.

Chromosome 13 Although it is not exactly understood why retinoblastoma occurs, it is known that in all cases this cancer is caused by an abnormality in chromosome 13, in which a piece of the chromosome is nonfunctional or missing. (Chromosomes are the components of a cell that contain genetic information.)

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At the present time, the genetic test is most accurate if the lab can study a specimen of tumor from the surgically removed, or enucleated, eye of the patient together with a blood sample. If the patient has the inherited genetic abnormality, other members of the family may be screened or observed for development of the disease.

The most common situation is where neither parent has the gene for retinoblastoma but has a child born with retinoblastoma. If the parents are genetically normal, the chance of another child having retinoblastoma is one in 15,000 to 20,000.

Unilateral Retinoblastoma If a parent had unilateral retinoblastoma, 7 to 15 percent of their offspring will have retinoblastoma. When a parent with unilateral retinoblastoma has a child who develops retinoblastoma, that child will develop bilateral retinoblastoma 85 percent of the time.

Every time the unilateral retinoblastoma parent has another child, the chance of that child developing retinoblastoma is 7 to 15 percent.

Bilateral Retinoblastoma If a parent has been treated for bilateral retinoblastoma, almost half (45 percent) of their children will develop retinoblastoma in their eyes. At birth, the child may have tumors in the eye or elsewhere in the body. Other children may not have tumors at birth but will begin to develop them by 28 months and can continue to form them for up to seven years.

Many of these children do not have the tumor present at birth. In our experience, if the child is going to develop retinoblastoma, he or she will begin to develop tumors in the eyes by 28 months and can continue to form them until the age of seven years.

The majority of children with retinoblastoma born to a parent with bilateral retinoblastoma will also have bilateral retinoblastoma, but about 15 percent will develop unilateral retinoblastoma.

Cancer-Free Parents The situation where neither parent has had retinoblastoma is the most common and the most difficult to explain. When this occurs, both parents are encouraged to have a dilated retinal exam.

One percent of the time, there is evidence of a cured or limited form of retinoblastoma in the eye of a parent who was never aware of having had retinoblastoma and was never treated for it. In this case, 45 percent of that parent's children will develop retinoblastoma.

More confusing, and rarer, is the possibility that a parent has the gene for retinoblastoma but no evidence of retinoblastoma in their eyes. This is called the carrier state, meaning the parent carries the gene but not the disease. Again, 45 percent of their children will be affected with retinoblastoma.

Treatment For children with retinoblastoma in their eyes only, we use a mild form of chemotherapy to avoid or delay radiation therapy whenever possible. After the chemotherapy causes the retinoblastoma tumors to shrink, we use laser treatment, cryotherapy (freezing treatment), and plaque brachytherapy (a form of focused radiation therapy) to cure the remainder.

At Memorial Sloan-Kettering Cancer Center, the treatment of retinoblastoma is customized for each patient, and depends upon the age of the child, the involvement of one or both eyes, and whether or not the cancer has spread to other parts of the body. The main

treatment options are as follows:

Enucleation Enucleation is the most common treatment for retinoblastoma. During an enucleation, the eye is surgically removed. This is necessary because it is the only way to remove the cancer completely. It is not possible to remove the cancer from within the eye without removing the entire eye.

The removal of the eye is done under general anesthesia. In the operation, the entire eye is removed along with a long piece of optic nerve as one specimen, and is sent to a pathologist for examination under a microscope.

The eyebrow, lids, and muscles of the eye are all left in place. Blinking, tearing, and movement of the brow are not affected from this surgery. The operation takes less than an hour and is not painful. Children go home the same day and are usually examined in the office on the following day when post-operative instructions and care are explained.

Prosthetic Replacement A ball of plastic, rubber, or coral is placed where the eye had been so there is no cavity or hole. After the socket heals, it will look like the tissue on the inside of the lip.

The child is fitted for a prosthesis or false eye approximately three weeks after the operation. The prosthesis is made of plastic to look exactly like the other eye. The prosthetic eye does not move as well as a natural eye and tends to move better up and down than it does side to side. And, of course, the prosthetic eye does not see. There is currently no way to transplant or replace an entire eye.

When both eyes are involved, sometimes the more involved or “worse” eye is enucleated, while the other eye may be treated with one of the vision-preserving treatments, such as external beam radiation, plaque therapy, cryotherapy, laser treatment, or chemoreduction.

External Beam Radiation Treatment External beam radiation has been used since the early 1900's as a way to save the eye and the child's vision. Retinoblastoma is sensitive to radiation, and frequently the treatment is successful. The radiation treatment is performed on an outpatient basis five times per week over a three to four week stretch.

Custom-made plaster-of-paris molds are made to prevent the head from moving during treatment and sometimes sedatives are prescribed prior to treatment.

Tumors usually get smaller (regress) and look scarred after external beam radiation treatment but they rarely disappear completely. In fact, they may even become more obvious to the parent as they shrink, because the pinkish-grey tumor mass is replaced by white calcium.

–  –  –

Radioactive Plaques Radioactive plaques are disks of radioactive material that were developed in the 1930's to radiate retinoblastoma. Today, the isotope iodine-125 is used and the plaques are custom-built for each child.

According to New York State radiation safety rules, the child must be hospitalized for this procedure, and he or she undergoes two separate operations (one to insert the plaque and another to remove it) over three to seven days. Following the use of radioactive plaque, long-term effects including cataracts, radiation retinopathy, and impaired vision may occur.

Laser Therapy Laser therapy, which includes photocoagulation and laser hyperthermia (A type of treatment in which body tissue is exposed to high temperatures to damage and kill cancer cells), is a non-invasive treatment for retinoblastoma. Lasers very effectively destroy smaller retinoblastoma tumors. This type of treatment is usually done by focusing light through the pupil onto and surrounding the cancers in the eye.

A new delivery system of the laser, called a diopexy probe, enables treatment of the cancer by aiming the light through the wall of the eye and not through the pupil. Our physicians at Memorial Sloan-Kettering were the first worldwide to use the dioplexy probe.

Laser treatment is done under local or general anesthesia, usually does not have any post-operative pain associated with it, and does not require any post-operative medications. Laser may be used alone in addition to external-beam radiation, plaques, or cryotherapy.

Cryotherapy Cryotherapy freezes smaller retinoblastoma tumors and is performed under local or general anesthesia. A pen-like probe is placed on the sclera adjacent to the tumor and the tumor is frozen. Cryotherapy usually has to be repeated many times to successfully destroy all of the cancer cells.

Cryotherapy causes the lids and eye to swell for one to five days; sometimes the swelling is so much that the children are unable to open their lids for a few days. This can be frightening for the child and parents, but is usually harmless. Eye drops or ointment can be given to reduce the swelling.

Chemoreduction Chemoreduction is the treatment of retinoblastoma with chemotherapy. Chemotherapy given intravenously to your child passes through the blood stream, and, if successful, causes the tumors to shrink within a few weeks. Chemotherapy, with one or more drugs, can be given once, twice, or more often.



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