Diagnosing

Retinoblastoma in Children


Diagnosing Retinoblastoma in Children

No screening tests are in practice for retinoblastoma, namely because it is so rare. However, if retinoblastoma is suspected, Sheba’s doctors may perform the following tests:

 

Physical exam and case history

We will perform a thorough examination of your child’s eyes and body to check their overall health. Our doctors will also ask about family history of retinoblastoma and other types of cancer. Family history is important, because it can help to determine if other relatives could pass the RB1 gene mutation to their children. If the exam points to a possible diagnosis of retinoblastoma, imaging tests will be performed to confirm it.

 

Imaging tests

  • Ultrasound of the eye: Sound waves are used to record images of tissues in the inner structure of the eye
  • OCT (optical coherence tomography) scan: Light waves are used to create precise images of the back of the eye
  • MRI (magnetic resonance imaging) scan: Using radio waves and strong magnets, detailed pictures of the eye are generated
  • CT scan: This type of imaging uses X-rays, which are not preferred for children, but sometimes a CT scan is necessary when the diagnosis is unclear
  • Bone scan: Used only when it is suspected that retinoblastoma may have spread to the skull or other bones

 

Genetic testing

When a diagnosis of retinoblastoma is confirmed, genetic testing is helpful for determining if the disease is the congenital form or the non-heritable form. Knowing which form of the disease a child has is significant, because it can provide information about their risk of developing other cancers in the future.

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