Home » What Parents Need to Know about Retinoblastoma (RB1 Gene) ?

What Parents Need to Know about Retinoblastoma (RB1 Gene) ?

by Medical Director
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What is Retinoblastoma?

Retinoblastoma is a kind of eye tumor that affects the retina, the inner layer of the eye. The retina sends images of nerve cells and the brain against the background of sensations and allows us to see.

Retinoblastoma is an eye tumor (collection of cells) that grows in the retina. This happens when nerve cells get out of control. This means that the eyes do not communicate properly with the brain.

Retinoblastoma can occur at any age, but usually occurs in children under 2 years of age. Affecting either one or both eyes. They do not spread to other parts of the body.

Signs & Symptoms of Retinoblastoma?

An early sign of retinoblastoma is collection of Leukocoria (swollen white pupil). In bright light, the pupil may be silver or yellow.

Other indications are:

✔️Irregularly shaped eyes.

✔️Crossed eyes

✔️pupil is larger than usual

✔️Cloudy iris (part of eye color)

✔️Lack of vision

“Health Is Like Money, We Never Have A True Idea Of Its Value Until We Lose It.”
Josh Billings

How Retinoblastoma Happens?

Most retinoblastoma is caused by genetic mutations (gene alterations).

Hereditary retinoblastoma may be:

✔️Children inherit a mutation (gene mutation) from their parents. Retinoblastoma often develops in children.

✔️Spontaneously in a fetus amid pregnancy. Most children have retinoblastoma before the age of one.

This type of retinoblastoma basically affects both eyes & can origin more than one tumor in each eye.

Sporadic retinoblastoma occurs when a mutation in a gene occurs in childhood, usually after 1 year, and affects one eye. The doctor did not know why this happened.

Diagnosis of Retinoblastoma?

A Pediatric Ophthalmologists will carefully be examining the retina by dilating the pupil with eye drops. Sometimes, in younger children, the doctor might prescribe medication to wake the child during investigation.

Your doctor may also perform tests such as eye ultrasound, MRI, blood tests, and genetic tests.

If retinoblastoma is identified, a pediatric oncologist can do a test to determine if there is cancer in the baby’s body.

✔️Retinoblastoma, which is found only in the eye, is called intraocular.

✔️Retinoblastoma that spreads from the eye to other parts of the body is called as extraocular. This type of tumor is rare, but it can affect the brain, spinal cord, bone marrow, or lymph nodes. Many treatments may be needed, such as radiation therapy, chemotherapy, and bone marrow transplants.

If your retinoblastoma is extraocular, your doctor will perform additional blood tests, a spinal puncture (lumbar puncture), and a bone marrow biopsy.

How Is Retinoblastoma Treated?

An ophthalmologist and oncologist work with a team of other experts to protect children with retinoblastoma. The team plans treatment based on the size of the tumor, which is in one or both eyes or is it spreading.

When treating a child with retinoblastoma, the doctor tries to:

✔️Eliminate cancer

✔️If possible, save both eyes

✔️Help your child see

For Retinoblastoma there are several treatments, each of which aims to destroy the cancer cells. Medications or a combination may be recommended.

✔️Systemic chemotherapy: The drug is prescribed orally to kill the tumor, by injection or intravenously

✔️Intra-arterial chemotherapy: Today, chemotherapeutic drugs are inserted into small arteries (visible blood vessels) that facilitate the direct tumor delivery of these drugs.

✔️Intra-vitreous chemotherapy: Chemotherapy is injected in the vitreous to treat a small tumor in the eye.

✔️Cryotherapy: Liquid nitrogen or argon gases is used to dissect and destroy cancerous tissues.

✔️Laser Therapy: Laser energy penetrates the blood vessels around the tumor, creating small blood clots and removes the nutrients that cancer cells need.

✔️Radioactive plaques: Radioactive materials (little rods) are placed directly on the tumor; the radiation is directed to certain places. This treatment reduces the damages to nearby healthy tissues.

✔️External Beam Radiation (EBRT): beam radiations are gently used to destroy cancer cells. This therapy is sometimes used to treat aggressive tumors.

✔️Enucleation (removes the eyes): In the case of acute retinoblastoma, the eye is removed to prevent cancer cells to spread to other parts of the body.

Children should have regular eye examinations to make sure the treatment is effectively working.

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British BioMedicine Institute – An Evidence And Skill Based eLearning Platform

What transpires after treatment?

Retinoblastoma treatment can cause side effects in some children.

✔️Chemotherapy can make your baby feel nauseous, tired, depressed, or have a fever.

✔️Radiation therapy may make the child feel tired. The skin of the treated area may be red or dry.

In the meantime, the doctor will prescribe pain relievers to your baby.

At the end of treatment, the child can return to normal activities if he or she is feeling well and the doctor says this is normal. Recovery time may vary from child to child.

Children whose eyes are removed get a prosthetic eye in its place. The quality of Prosthetic eyes is usually good and people cannot realize that the eyes are natural and artificial.

Usually, children lead a normal life during retinoblastoma treatment.

Closing Remarks

If a parent or child has a retinoblastoma, the baby should have an eye investigation shortly after birth in order to determine if there is an eye tumor. If the tumor has already been detected, the child does need less treatment and the doctor can better chance to protect the child’s eyesight.

Children who have inherited retinoblastoma of one eye may have another eye. It is therefore essential that they undergo regular eye health examinations in accordance with the ophthalmologist’s recommendations. After treatment, they should be examined every year under the guidance of a treatment group.

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