Disease: Retinoblastoma

Overview

Retinoblastoma is an eye cancer that begins in the retina — the sensitive lining on the inside of your eye. Retinoblastoma most commonly affects young children, but can rarely occur in adults.

Your retina is made up of nerve tissue that senses light as it comes through the front of your eye. The retina sends signals through your optic nerve to your brain, where these signals are interpreted as images.

A rare form of eye cancer, retinoblastoma is the most common form of cancer affecting the eye in children. Retinoblastoma may occur in one or both eyes.

Source: http://www.mayoclinic.com

Symptoms

Because retinoblastoma mostly affects infants and small children, symptoms are rare. Signs you may notice include:

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

When to see a doctor

Make an appointment with your child's doctor if you notice any changes to your child's eyes that concern you. Retinoblastoma is a rare cancer, so your child's doctor may explore other more common eye conditions first.

If you have a family history of retinoblastoma, ask your pediatrician when your child should begin regular eye exams to screen for retinoblastoma.

Source: http://www.mayoclinic.com

Causes

Retinoblastoma occurs when nerve cells in the retina develop genetic mutations. These mutations cause the cells to continue growing and multiplying when healthy cells would die. This accumulating mass of cells forms a tumor.

Retinoblastoma cells can invade further into the eye and nearby structures. Retinoblastoma can also spread (metastasize) to other areas of the body, including the brain and spine.

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

Retinoblastoma that is inherited

Gene mutations that increase the risk of retinoblastoma and other cancers can be passed from parents to children.

Hereditary retinoblastoma is passed from parents to children in an autosomal dominant pattern, which means only one parent needs a single copy of the mutated gene to pass the increased risk of retinoblastoma on to the children. If one parent carries a mutated gene, each child has a 50 percent chance of inheriting that gene.

Although a genetic mutation increases a child's risk of retinoblastoma, it doesn't mean that cancer is inevitable.

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

Source: http://www.mayoclinic.com

Diagnosis

Tests and procedures used to diagnose retinoblastoma include:

  • Eye exam. Your eye doctor will conduct an eye exam to determine what's causing your child's signs and symptoms. For a more thorough exam, the doctor may recommend using anesthetics to keep your child still.
  • Imaging tests. Scans and other imaging tests can help your child's doctor determine whether retinoblastoma has grown to affect other structures around the eye. Imaging tests may include ultrasound, computerized tomography (CT) scan and magnetic resonance imaging (MRI), among others.
  • Consulting with other doctors. Your child's doctor may refer you to other specialists, such as a doctor who specializes in treating cancer (oncologist), a genetic counselor or a surgeon.

Source: http://www.mayoclinic.com

Complications

Children treated for retinoblastoma have a risk of cancer returning in and around the treated eye. For this reason, your child's doctor will schedule follow-up exams to check for recurrent retinoblastoma. The doctor may design a personalized follow-up exam schedule for your child. In most cases, this will likely involve eye exams every few months for the first few years after retinoblastoma treatment ends.

Additionally, 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. For this reason, children with inherited retinoblastoma may have regular exams to screen for other cancers.

Source: http://www.mayoclinic.com

Prevention

In most cases, doctors aren't sure what causes retinoblastoma, so there's no proven way to prevent the disease.

Prevention for families with inherited retinoblastoma

In families with the inherited form of retinoblastoma, preventing retinoblastoma may not be possible. However, genetic testing enables families to know which children have an increased risk of retinoblastoma, so eye exams can begin at an early age. That way, retinoblastoma may be diagnosed very early — when the tumor is small and a chance for a cure and preservation of vision is still possible.

If your doctor determines that your child's retinoblastoma was caused by an inherited genetic mutation, your family may be referred to a genetic counselor.

Genetic testing can be used to determine whether:

  • Your child with retinoblastoma is at risk of other related cancers
  • Your other children are at risk of retinoblastoma and other related cancers, so they can start eye exams at an early age
  • You and your partner have the possibility of passing the genetic mutation on to future children

The genetic counselor can discuss the risks and benefits of genetic testing and help you decide whether you, your partner or your other children will be tested for the genetic mutation.

Source: http://www.mayoclinic.com

Coping and support

When your child is diagnosed with cancer, it's common to feel a range of emotions — from shock and disbelief to guilt and anger. Everyone finds his or her own way of coping with stressful situations, but if you're feeling lost, you might try to:

  • Gather all the information you need. Find out enough about retinoblastoma to feel comfortable making decisions about your child's care. Talk with your child's health care team. Keep a list of questions to ask at the next appointment.

    Visit your local library and ask for help searching for information. Consult the websites of the National Cancer Institute and the American Cancer Society for more information.

  • Organize a support network. Find friends and family who can help support you as a caregiver. Loved ones can accompany your child to doctor visits or sit by his or her bedside in the hospital when you can't be there.

    When you're with your child, your friends and family can help out by spending time with your other children or helping around your house.

  • Take advantage of resources for kids with cancer. Seek out special resources for families of kids with cancer. Ask your clinic's social workers about what's available.

    Support groups for parents and siblings put you in touch with people who understand what you're feeling. Your family may be eligible for summer camps, temporary housing and other support.

  • Maintain normalcy as much as possible. Small children can't understand what's happening to them as they undergo cancer treatment. To help your child cope, try to maintain a normal routine as much as possible.

    Try to arrange appointments so that your child can have a set nap time each day. Have routine mealtimes. Allow time for play when your child feels up to it. If your child must spend time in the hospital, bring items from home that help him or her feel more comfortable.

    Ask your health care team about other ways to comfort your child through his or her treatment. Some hospitals have recreation therapists or child-life workers who can give you more specific ways to help your child cope.

Source: http://www.mayoclinic.com

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