Generality/Definition
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RB occurs in cells that have cancer-predisposing mutations in both copies of the gene RB1. RB1 is the only gene known to be associated with retinoblastoma. Molecular genetic testing of the RB1 gene in white blood cell DNA is available in clinical laboratories and can identify a germline mutation in about 90% of individuals with a hereditary predisposition to RB.
Source: GeneReviews.org (genereviews.org)
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About 40 cases of retinoblastoma (RB) are diagnosed each year in the UK. Most of these occur in children younger than 5 years old, although it can affect children of any age. Retinoblastoma is a tumour that occurs in the retina. This is the light-sensitive lining of the eye. It can occur in two forms: an inherited form where there are often tumours in both eyes (bilateral) or sometimes only in one eye a non-inherited form where there is a tumour in only one eye (unilateral)
Source: Retinoblastoma (cancerbacup.org.uk)
Symptoms
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Some children with retinoblastoma may have no symptoms and will be picked up by screening (in children of families with a history of the condition). If there is no family history of retinoblastoma the first sign of the condition is often a white pupil that does not reflect the light. This may be detected when a picture of the child is taken using flash photography. The affected eye may look white in the photograph. Some children may have a squint or, if the tumour is large, it may cause a painful red eye.
Source: Retinoblastoma (cancerbacup.org.uk)
Diagnosis
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The diagnosis of retinoblastoma is usually established by examination of the fundus of the eye using indirect ophthalmoscopy. CT, MRI, and ultrasonography are used to support the diagnosis and stage the tumor. Retinoblastoma is considered unifocal if a single RB tumor is present; it is considered multifocal if more than one tumor is present. Multifocal tumors include the occurrence of multiple RB tumors in one eye (unilateral) or the occurrence of RB tumors in both eyes (bilateral). The occurrence of bilateral RB plus a pinealoma is referred to as trilateral RB.
Source: GeneReviews.org (genereviews.org)
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An ultrasound scan may be used, which is a painless scan that uses sound waves to examine the eye and the surrounding area. A CT scan or MRI scan is a series of detailed images that show the structures of the eye and brain. A lumbar puncture may be used to collect some of the fluid from around the brain and spinal cord (cerebrospinal fluid). This is to check if there has been any spread of the tumour into the cerebrospinal fluid. A bone-marrow sample may be taken to check if there has been any spread of the cancer to the bone marrow; some children may also need a bone scan so that doctors can look more closely for signs of any spread to the bones. A blood test may be taken for genetic testing for the Rb gene. Results of this test can take some months.
Source: Retinoblastoma (cancerbacup.org.uk)
Treatment
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For smaller tumours treatment is given to the eye itself, by one of the following methods: Cryotherapy : This is used to freeze the tumours. More than one session may be necessary (in which case they are usually done at monthly intervals). Laser therapy : A laser is used to vaporise the tumour. Two or three sessions may be needed at monthly intervals. Plaque: For slightly larger tumours, and tumours that have not been successfully treated using other methods, a small disc containing a radioactive substance can be stitched over the tumour. The disc needs to stay in place for two to four days. The radiation destroys the cancer cells. Thermotherapy : This process uses heat to destroy the cancer cells and may be combined with chemotherapy or radiotherapy, as heat can improve the effect of these treatments. The heat is produced by a laser that is directed at the tumour.
For larger tumours : These can be treated in a number of ways, including: Chemotherapy : Chemotherapy is the use of anti-cancer (cytotoxic) drugs to destroy cancer cells. This may be given before the local treatments mentioned above, to help to shrink the tumour. This can make the treatment more successful. Chemotherapy can also be used if the cancer has spread to other parts of the body or if it is thought that there is a significant risk that it will do so. Radiotherapy : Radiotherapy from a machine can be given to the whole eye. Radiotherapy treats cancer by using high-energy rays, to destroy the cancer cells while doing as little harm as possible to normal cells, although there will be some effect on the surrounding tissues. Surgery : If the tumour is very large and the vision in the eye is lost, the eye is removed. This is called enucleation. An artificial eye (prosthesis) is then fitted.
Source: Retinoblastoma (cancerbacup.org.uk)
Statistics
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RB may be unifocal or multifocal. About 60% of affected individuals have unilateral RB with a mean age of diagnosis of 24 months; about 40% have bilateral RB with a mean age of diagnosis of 15 months. Individuals heterozygous for a cancer-predisposing mutation in one RB1 allele are said to have a germline mutation and thus have a hereditary predisposition to RB.
Source: GeneReviews.org (genereviews.org)
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