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Heritable Retinoblastoma

Heritable Retinoblastoma - Symptoms

What are the features of retinoblastoma?

If parents notice one or more of the following features suggestive of retinoblastoma, they should consult an eye specialist as soon as possible.

  • Leukocoria or a white pupil, especially with flash photography
    Leukocoria (white pupil)
  • Vision problems
  • Red or irritated eyes
  • Strabismus or misaligned eyes (one eye turns in/out/up/down when the child is looking straight ahead)
    Strabismus (misaligned eyes)


What are the tumour and cancer risks associated with heritable retinoblastoma?

Heritable retinoblastoma is associated with a faulty RB1 gene present in every cell of the body, which increases the lifetime risk of developing other tumours or cancers.

Tumour and cancer risks associated with heritable retinoblastoma as compared to the general population
Tumour / cancer type RB1 faulty gene carrier risk
(50-60 years after diagnosis)
General population risk
Soft tissue cancer
(soft tissue sarcoma)
7 - 9%0.4%
Bone cancer
(osteosarcoma)
4 - 7%0.1%
Brain tumour4%
0.6%
Skin cancer
(melanoma)
3 - 4%2.3%

Note: The conditions associated with a faulty RB1 gene and their risk estimates may change as more information is available.

Heritable Retinoblastoma - How to prevent?

Heritable Retinoblastoma - Preparing for surgery

Heritable Retinoblastoma - Post-surgery care

The information provided is not intended as medical advice. Terms of use. Information provided by SingHealth

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