1 What is Retinoblastoma?

Retinoblastoma is a rare type of eye cancer that develops in the light sensitive layer of nerve tissue at the back of your eye, retina.

Retina creates image by sending signals to your brain via optic nerves.

Retinoblastoma can develop in one or both eyes.

Retinoblastoma is common in children while it develops rarely in adults. 

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2 Symptoms

Being common in children and infants, the symptoms of retinoblastoma may not be apparent.

Some noticeable signs include:

  • A white dot in your pupil when a light is flashed in the eye
  • Misaligned eyes (eyes looking in different directions)
  • Red and inflamed eyes

When to see a doctor?

Visit your child's doctor if your child experiences any signs and symptoms of retinoblastoma. Ask your child's doctor when your child should be screened for retinoblastoma if anyone in your family has retinoblastoma.

3 Causes

Retinoblastoma is caused by DNA mutations in nerve cells of retina which cause “out-of-control” growth and multiplication of cells resulting in a tumor.

As retinoblastoma progresses, it can affect neighboring structures and may also spread (metastasize) to other parts of body, such as

  • brain,
  • spine
  • bones.

The cause of genetic mutation is not understood. Children with retinoblastoma may inherit the condition from their parents.

Inherited Retinoblastoma

A child can inherit cancer-causing genetic mutations from parents. If one of the parents has a mutated gene, a child’s risk of inheriting the gene is 50%.

These genetic mutations can cause the condition to occur at an early age. Inherited retinoblastoma usually affects both eyes.

4 Making a Diagnosis

The diagnosis of retinoblastoma includes following tests:

Examination of eye

Eye examination can help your child’s doctor identify the cause of your child's signs and symptoms. Your child may be given anesthetics to facilitate a detailed eye examination.

Imaging tests

Imaging tests, such as

  • ultrasound,
  • computerized tomography (CT) scan
  • magnetic resonance imaging (MRI),

help to check if retinoblastoma has invaded nearby structures.

Referral to other specialists

Your child may be referred to an oncologist (who treats cancer), a genetic counselor or a surgeon.

5 Treatment

The main aim of treatment is to treat retinoblastoma without affecting your child's vision.

Selection of a treatment option is guided by occurrence and extent of the cancer, whether other body parts are affected and your child's general health status.

The treatment options for retinoblastoma include:


It uses oral or injectable drugs to destroy cancer cells. In children with retinoblastoma, chemotherapy may be used before other treatments such as radiation therapy, cryotherapy, thermotherapy or laser therapy to reduce size of the cancer.

It may also be used to destroy the cancer cells that have survived other treatments, thereby eliminating the need of surgery. Chemotherapy is also an option for treating retinoblastoma that has metastasized.

Radiation therapy

Radiation therapy utilizes high-energy radiations, such as X-rays, to destroy cancer cells. The types of radiation therapy are:

Internal radiation (brachytherapy)

The cancer cells are destroyed by radiation from a device that is kept in or adjacent to the tumor. This procedure reduces the risk of damage to healthy tissues in eye.

External beam radiation

The source of radiation is kept outside of the body and radiation is focused to specific areas. External beam radiation can affect areas around the eyes, such as brain and cause several side effects. So, external beam radiation is opted if your child has advanced retinoblastoma or your child is unresponsive to other treatments.

Laser therapy (laser photocoagulation)

Blood vessel supplying nutrients and blood to the cancer cells are destroyed by using laser. Lack of blood and nutrient supply may kill the cancer cells.

Cold treatments (cryotherapy)

The cancer cells are destroyed by exposing them to very cold substance such as liquid nitrogen.

Heat treatments (thermotherapy)

The cancer cells are killed be heat delivered from ultrasound, microwaves or lasers.


Surgery is required when tumor is too large. Surgical removal of eye may prevent metastasis of retinoblastoma.

Surgical removal of the affected eye (enucleation): Eye is removed by detaching it from surrounding muscles and tissues. Surgery also removes a part of optic nerve connected to the eye.

Placing an eye implant

A plastic ball is fitted into eye sockets immediately after removal of the eyeball. Your child can move the new eyeball which gives him/her a natural feel even though the vision is lost.

Fitting an artificial eye

An artificial eye that looks similar to your child’s original eye can be placed in a natural position over the eye implant. The artificial eye moves as your child moves the eye implant. Surgery increases the risk of infection and bleeding.

Clinical trials

Clinical trials are the experimental studies that test safety and effectiveness of new treatments for a disease or a condition. But remember these trials do not guarantee a cure. Discuss with your child's doctor if you are considering participation in a clinical trial.

6 Prevention

The cause of retinoblastoma is unknown and so are the ways to prevent it.

Prevention for families with inherited retinoblastoma

Retinoblastoma may not be preventable if inherited retinoblastoma runs in your family. But genetic testing can help to assess your child's risk of retinoblastoma and arrange regular screenings, if necessary.

If diagnosed very early, a cure may be possible and loss of vision could be prevented. Consider seeing a genetic counselor if your child has inherited retinoblastoma.

Discuss in detail about the pros and cons of having a genetic testing. Genetic testing can determine:

  • If your child with retinoblastoma can develop other types of cancers
  • Your other child’s risk of retinoblastoma and other related cancers, so that eye examination can be started at an early age
  • Your and your partner’s chances of passing the genetic mutation to your children

7 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with retinoblastoma.

Having to see your loved ones in pain can be agonizing and stressful. At times, you may find yourself helpless.

But wait, hold on for a moment and think again, time heals every wound. Till then, here are some suggestions that may help you:

  • Expand and update your knowledge on retinoblastoma.
  • Stay close to friends and family.
  • Join support groups in your community or online.
  • Help your child adapt by maintaining a schedule.
  • Never stop exploring the ways to comfort your child.

8 Risks and Complications

There are several risks and complications associated with retinoblastoma.

Despite being treated, your child may develop retinoblastoma again.

So, your child needs to have frequent checkups to detect any signs of recurrence.

For few years after treatment, your child's doctor schedules eye examination every few months.

Also, a child with hereditary retinoblastoma is likely to develop other form of cancers years after treatment.

Hence, your child's doctor may suggest regular screening of cancer.

9 Related Clinical Trials