Rb Fast Facts
Introduction to Rb
Global Incidence
Signs and Symptoms
Referral and
Diagnosis
Staging Systems
Exam Under Anaesthetic
Treatment Options
Clinical Trials
Follow Up and Prognosis
RB1 Genetics
Glossary Of Terms
The following flow diagram, part of the Canadian Retinoblastoma Guidelines and used with permission, llustrates the optimal referral protocol when retinoblastoma is suspected or diagnosed.
Before birth, when there is a risk.
After birth, when there is a risk.
When retinoblastoma is suspected.
When retinoblastoma has been diagnosed.
When there is a family history of retinoblastoma, molecular genetic tests should be done to identify whether children in the family are at risk for retinoblastoma.
If the RB1 gene mutation has already been found in the affected parent’s blood, a sample can be obtained from the baby through amniocentesis or chorionic villus sampling, to test for any presence of the RB1 gene change.
If a genetic test comes back positive, or testing Is not available, it is possible to use a special ultrasound scan to identify tumour growth in the baby’s eyes before birth. If tumours are found, the baby can be delivered prematurely to begin treatment as soon as possible. However, pre-term diagnosis and treatment is very new, and currently only available at a small number of highly specialised hospitals around the world.
When there is a family history of retinoblastoma, molecular genetic tests should be done to identify whether children in the family are at risk for retinoblastoma. A blood sample for testing can be taken from the cord blood at birth, or directly from the baby.
If a genetic test comes back positive, or testing Is not available, the child must be regularly checked for signs of the cancer, so that treatment can begin as early as possible if a tumour does develop.
Eye examinations should begin immediately after birth, and be repeated every few weeks for 3 months, reducing gradually to every 6 months during the first 3 years of life. 6-12 monthly retinal exams in clinic should continue for the next 10 years, or until genetic tests confirm there is no mutation of the Rb1 gene.
The eye examination should be performed by an ophthalmologist (eye specialist). During a basic examination, the doctor will use a tool called an ophthalmoscope. This shines a bright light into the eye to check for any abnormal developments.
Due to the young age of affected children, a thorough examination of the retina can only be performed under general anaesthetic (whilst the child is asleep). All at risk children should therefore be regularly examined under anaesthetic.
Currently, there is no blood test available to help diagnose retinoblastoma, only genetic testing to predict risk.
The ophthalmologist should apply drops to dilate the pupils for a clearer examination of the retina, both in clinic and under anaesthetic.
Retinoblastoma is rare among cancers because it can be diagnosed just by its appearance (clinical symptoms). Therefore, a biopsy (tissue sample) is not necessary. This sype of surgery could actually cause tumour cells to spread outside the eye, making it very difficult to treat.
Once retinoblastoma has been diagnosed, other tests should be done to find out more about the tumour, such as it’s size and exact position, and whether it has spread outside the eye.
This process is known as staging, and helps the doctors to decide which treatments are most appropriate.
Many of these procedures are more effective and less traumatic when done whilst the child is asleep (under anaesthetic), or with good child life support.
A blood test should be taken for genetic analysis of the RB1 gene. Results can take several months, but they will help to establish if both eyes, and other family members, are at risk. This specialist genetic test is only available at a small number of centres around the world, and samples may need to be sent abroad for testing.
An ultrasound scan is a painless scan that uses sound waves to examine the eye and the surrounding area.
CT and MRI scans take a series of pictures which show the structures of the eye and brain.
A lumbar puncture extracts a small sample of the cerebrospinal fluid, which bathes the brain and spinal cord. This fluid Is then examined under a microscope, to see if any cancerous cells have spread to the brain.
A bone marrow aspirate or biopsy removes a small sample of marrow, usually from the hip bone. Marrow is the spongy material inside our bones, which makes blood cells. The marrow is examined to find out if cancerous cells have spread beyond the eye to the bone marrow.
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