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Retinoblastoma

Definition


Disease: Retinoblastoma Retinoblastoma
Category: Eye diseases
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Disease Definition:

The cancer that begins in the retina, which is the sensitive lining on the inside of the eye, is called retinoblastoma. This cancer rarely occurs in adults, and it most commonly affects young children.

Nerve tissue that senses light as it comes through the front of the eye makes up the retina. In the brain, signals are interpreted as images after the retina sends these signals through the optic nerve to the brain.
Retinoblastoma is the most common cancer affecting the eye in children, despite the fact that it’s a rare form of cancer.

Work Group:


Prepared by: Scientific Section

Symptoms, Causes

Symptoms:

Retinoblastoma may cause some of these signs:

 

  • Eye redness
  • Eye swelling
  • Eyes that appear to be looking in different directions
  • A white color in the center circle of the eye (pupil) when light is shined in the eye, such as when taking a flash photograph


When parents notice any changes to their child's eyes that concern them, they should make an appointment with their child's doctor. The doctor may explore other more common eye conditions first since retinoblastoma is a rare cancer.

Parents should ask the pediatrician when their child should start regular eye exams to screen for retinoblastoma in case they have a family history of this cancer.

Causes:

When nerve cells in the retina develop genetic mutations that cause them to continue growing and multiplying when healthy cells would die, retinoblastoma occurs. The tumor is formed by this accumulating mass of cells. Retinoblastoma cells can invade further into the eye and nearby structures. Including the brain and spine, retinoblastoma can also spread (metastasize) to other areas of the body.

It's possible for children to inherit a genetic mutation from their parents. However, it's not clear what causes the genetic mutations that lead to retinoblastoma in the majority of cases.


INHERITED RETINOBLASTOMA:
Gene mutations that increase the risk of retinoblastoma and other cancers can be passed from parents to children. Only one parent needs a single copy of the mutated gene in order to pass the increased risk of retinoblastoma on to their children, so inherited retinoblastoma is passed from parents to children in an autosomal dominant pattern. Each child has a 50% chance of inheriting a mutated gene if one parent carries it.
It doesn't mean that cancer is inevitable, even though a genetic mutation increases a child's risk of retinoblastoma.

With the inherited form of retinoblastoma, children tend to develop the disease at an earlier age. And as opposed to just one eye, inherited retinoblastoma also tends to occur in both eyes.

Complications

Complications:

LONG-TERM SIDE EFFECTS OF CANCER TREATMENT:
In young children, treatments for retinoblastoma may cause long-lasting side effects. The long-term side effects the child is at risk of will depend on what treatments are used.
What long-term complications could occur in the child and what signs and symptom to watch for are things that parents should ask the child's doctor. Doctors can sometimes predict what health problems the child may be at risk of in the future. However, treatments are relatively new and doctors don't yet know what the long-term risks will be in other cases.


RECURRENT RETINOBLASTOMA:
The child's doctor will schedule follow-up exams to check for recurrent retinoblastoma because children treated for retinoblastoma have a risk of cancer returning in and around the treated eye. It will likely involve eye exams every few months for the first few years after retinoblastoma treatment ends. So the doctor will design a personalized follow-up exam schedule for the child.
Children with inherited retinoblastoma require long-term follow-up with a cancer doctor (oncologist) because children with the inherited form of retinoblastoma have an increased risk of developing other types of cancers in any part of the body in the years after treatment.

Treatments:

The parents' preferences, the child's overall health, whether cancer has spread to areas other than the eye and the size and location of the tumor are the things that determine what treatments are best for the child's retinoblastoma. The child's doctor will work to preserve the child's vision if possible.

CHEMOTHERAPY:
The drug treatment that uses chemicals to kill cancer cells is called chemotherapy. Chemotherapy can be delivered through a vein, or it can be taken in pill form. To kill cancer cells, chemotherapy drugs travel throughout the body.
Chemotherapy may help shrink a tumor so another treatment, such as laser therapy, thermotherapy, brachytherapy, or cryotherapy may be used to treat the remaining cancer cells in children with retinoblastoma. The chances that the child won't need surgery may improved by this option.
To treat retinoblastoma that has spread to tissues outside the eyeball or to other areas of the body, chemotherapy may also be used.

RADIATION THERAPY:
To kill cancer cells, radiation therapy uses high-energy beams, such as X-rays and others. In treating retinoblastoma, the two types of radiation therapy that could be used include:


Brachytherapy (Internal radiation):
The treatment is placed in or near the tumor during internal radiation. A small disc made of radioactive material is used in internal radiation for retinoblastoma. The disk is stitched in place and left for a few days while it slowly gives off radiation to the tumor. The chance that treatment will affect healthy eye tissue is reduced by placing radiation near the tumor. This treatment allows doctors to use higher doses of radiation.

External beam radiation:
From a large machine outside of the child's body, external beam radiation delivers high-powered beams to the tumor. The machine moves around the child, delivering the radiation as he/she lies on a table. When radiation beams reach the delicate areas around the eye, such as the brain, external beam radiation can cause side effects. External beam radiation is reserved For children with advanced retinoblastoma and those for whom other treatments haven't worked.

LASER THERAPY (LASER PHOTOCOAGULATION):
To destroy blood vessels that supply oxygen and nutrients to the tumor, a laser is used during this therapy. Cancer cells may die without a source for fuel.

COLD TREATMENTS (CRYOTHERAPY):
extreme cold is used in cryotherapy to kill cancer cells. A very cold substance, such as liquid nitrogen, is placed in or near the cancer cells during cryotherapy. The cold substance is then removed and the cells thaw once the cells freeze. Being repeated a few times in every cryotherapy session, this process of freezing and thawing causes the cancerous cells to die.

HEAT TREATMENTS (HYPERTHERMIA):
To kill cancer cells, thermotherapy uses extreme heat. Heat is directed at the cancer cells using ultrasound, microwaves or lasers during thermotherapy.

SURGERY:
Surgery for retinoblastoma includes:


Surgery to remove the affected eye (enucleation):
Surgeons disconnect the muscles and tissue around the eye and remove the eyeball during this surgery. A portion of the optic nerve, which extends from the back of the eye into the brain, is also removed.

Surgery to place an eye implant:
The surgeon places a special ball made of plastic or other materials in the eye socket immediately after the eyeball is removed. The muscles that control eye movement are attached to the implant. The eye muscles will adapt to the implanted eyeball after the child heals and so it may move just as the natural eye did. But the implanted eyeball cannot see.

Fitting an artificial eye:
A custom-made artificial eye can be placed over the eye implant a few months after surgery. So the artificial eye can be made to match the child's healthy eye and it sits behind the eye lids and clips onto the eye implant. It will appear that the child is moving the artificial eye as the child's eye muscles move the eye implant.
Bleeding and infection are some of the side effects of surgery. Even Though most children will adapt to the loss of an eye over time, removing it will affect the child's vision.

Prognosis:

Not Available

Expert's opinion

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Dr. Faisal Dibsi

Dr. Faisal Dibsi Specialist of Otolaryngology - Head and Neck Surgery

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