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
A therapy used in addition to, or accompanying another treatment.
Autologious Bone Marrow Transplant
Procedure used to “rescue” a patient’s bone marrow system following chemotherapy. Stem cells are removed from the patient, who then receives high-dose chemotherapy to destroy the malignant cells. The stem cells are then given back to the patient as an infusion into a vein. The stem cells produce new blood and immune cells to replace the cells destroyed by intensive chemotherapy.
Bilateral Retinoblastoma
Tumours in both eyes. Bilateral Rb is always heritable.
Brachytherapy
See Radioactive Plaque
Central Venous Catheter
A thin flexible tube surgically inserted into a large vein in the chest, for delivery of regular chemotherapy. The other end of the catheter may either be outside the body or attached to a small device just under the skin.
Cerebrospinal Fluid (CSF)
A clear fluid which bathes the brain.
Chemotherapy
Drug treatment of cancer.
Chromosome
A collection of DNA which can be seen under a microscope. There are 22 pairs of chromosomes, and two sex chromosomes.
Choroid
The second outermost layer of the eye, containing ocular blood vessels.
Constitutional Mutation
A genetic mutation that can be passed from parent to child.
Cryotherapy / Cryosurgery
A procedure which applies extreme cold to the tumour, freezing cancerous tissues.
Enucleation
Surgical removal of an eye.
EUA - Examination Under Anaesthesia
An eye examination carried out under general anaesthesia.
Extraocular Retinoblastoma
Retinoblastoma which has spread beyond the eye.
Familial Retinoblastoma
Retinoblastoma caused by a constitutional RB1 mutation which affects more than one family member and can be passed to the next generation.
Fluroscopy
An imaging technique used to map the arteries during delivery intra-arterial chemotherapy. A continuous x-ray beam is passed through the body, and images are transmitted to a screen to assist the surgeon in guiding the catheter through the child’s body from the leg to the eye.
Gene
A sequence of DNA containing Instructions which control the way we grow and develop.
Genetic counselling
An educational counselling process for individuals and families affected by or at risk for heritable disease. Provides information to help make informed decisions about genetic testing and treatment of the specific disease.
Genetic Testing
Tests done in either children or adults to locate the mutations responsible for retinoblastoma, aid prediction of treatment response and potential relapse, identify future risk for the patient, patient’s children and other blood relatives.
Hereditary Retinoblastoma
See Familial Retinoblastoma.
Heritable Retinoblastoma
Retinoblastoma caused by a mutation which can be passed on to the next generation.
Intra-Arterial Chemotherapy
Delivery of chemotherapy drugs directly to the ophthalmic artery through a catheter inserted in the child's femoral artery.
Laser / Photocoagulation
Focused beams of light are delivered through an ophthalmoscope, killing cancer cells by destroying their blood supply.
Leukocoria
A white reflection in the eye, caused by a tumour preventing light from reaching the retina, and reflecting it back as a whitish glow, like a cat’s eye.
Macula
A small area of specially light-sensitive cells in the centre of the retina which allows clear visualisation of fine detail.
Mosaic Mutation
A gene mutation which occurs in early foetal development, resulting in a percentage of affected cells whille the remaining cells carr unmutated copies of the gene. Mosaic mutations are not inherited but can be passed to the next generation.
Metastatic Retinoblastoma
Cancer that has spread from the eye to a distant site in the body, such as the brain or bone marrow.
Multifocal
More than one tumour in one eye. This strongly indicates the child's risk for a constitutional RB1 mutation
Ophthalmoscopy
Examination of the inside of the eye, using either a head lamp or a hand-held device to examine the eye.
Pathology
The process of examining tissues under a mircorsope to determine the nature of a disease and the need for further treatment.
Peri-ocular chemotherapy
Injection of chemotherapy agents into tissues surrounding the eye. This is done while the child is asleep, during EUA.
Port-a-cath
A thin flexible tube surgically inserted into a large vein in the chest, for delivery of regular chemotherapy. The tube is attached to a small device just under the skin, which is accessed using a special needle.
Post Laminar Optic Nerve Invasion (PLONI)
Tumour that has spread past the lamina cribrosa, a plate of connective tissue behind the eye.
Proband
The first person in a family to have retinoblastoma.
Proton Beam Therapy
A form of radiation using protons, which are larger and heavier than photons usde in standard external beam radiaton. The path of proton radiation can be more precisely controlled, reducing exposure to healthy tissues.
Radiotherapy
Treatment with ionizing radiation. High-energy rays are used to damage cancer cells and stop them from growing and dividing.
Radioactive plaque
Tiny pellets containing radioactive material, which are sewn onto the surface of the eye above tumour, and remain in place of a period of 1-4 days.
RB1
A tumour supressor gene found on chromosome 13q, which initiated retinoblastoma when both copies of the gene are damaged in a single cell.
Retina
Light sensitive nerve layer which lines the back of the eye. The retina creates impulses that travel through the optic nerve to the brain.
Sclera
The tough, outermost casing of the eye, this is the white part that you can see. The Sclera maintains the shape of the eye, and gives protection to its inner elements.
Somatic Cell Mutation
A mutation which has occurred in any cell other than the germ cells (egg or sperm). These mutations occur after conception and cannot be passed to the next generation.
Sporadic
A mutation that has not been inherited. This can refer to a somatic mutation a constitutional mutation.
Stem Cell Rescue
Procedure used to “rescue” a patient’s bone marrow system following chemotherapy. Stem cells are harvested from the patient, who then receives high-dose chemotherapy to destroy malignant cells. The stem cells are then given back to the patient as an infusion into a vein. The stem cells produce new blood and immune cells to replace the cells destroyed by intensive chemotherapy.
Subretinal Seeds
Tiny fragments that have broken away from a tumour and floated into fluid between the retina and the choroid.
Subtenon Chemotherapy
Injection of chemotherapy agents into the space behind the eye. This is done while the child is asleep, during EUA.
Systemic Chemotherapy
Chemotherapy which affects the entire body. For retinoblastoma, this is usually administered through a vein, but can be given as tablets or as an injection into the cerebrospinal fluid.
Trilateral Retinoblastoma
A rare form of heritable retinoblastoma which causes malignant tumours to form in the brain.
Unifocal
One tumour in the eye.
Unilateral Retinoblastoma
Tumour{s) affecting only one eye.
Vitreous Humor
A clear, jelly-like substance filling the middle of the eye.
Vitreous seeds
Tiny fragments which have broken off a tumour and invaded the vitreous humor.
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