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
- Vision problems
- Red or irritated eyes
- Strabismus or misaligned eyes (one eye turns in/out/up/down when the child is looking straight ahead)
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 / 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 tumour | 4%
| 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.
