Retinoblastoma
From Wikipedia, the free encyclopedia
|
Leukocoria of right eye indicating presence of tumor | |
ICD-10 | C69.2 |
ICD-9 | 190.5 |
ICD-O: | M9510/3 |
OMIM | 180200 |
DiseasesDB | 11434 |
MedlinePlus | 001030 |
eMedicine | oph/346 |
Retinoblastoma is a cancer of the retina. Development of this tumor is initiated by mutations that inactivate both copies of the RB1-gene, which codes for the Rb-1 protein. It occurs mostly in children before the age 5 years and accounts for about 3% of the cancers occurring in children younger than 15 years. However, adults cases have also been clinically recorded[1]. The estimated annual incidence is approximately 4 per million children [2]. Parents that are unfamiliar with the disease will normally first start to see white blotches in one or both eyes in photographs of the children's faces. As opposed to Red-eye effect which is normal. Concerned parents may also use a small flashlight (be careful to never use intense lights as they will damage the eye) to create the same white eye effect.
The tumor may begin in one or both eyes. Retinoblastoma is usually confined to the eye but can spread to the brain via the optic nerve.
Loss of vision occurs due to the physical blocking of light signals perceived by the eye that are passing through the retina.
[edit] Treatment
In former times the only treatment was to remove the affected eyeball before the cancer spread. This resulted all too often in the distressing situation of a small child having to be taken to see all the beautiful things possible before his/her sight vanished for ever.
Nowadays retinoblastoma can be treated by fastening a small radioactive pellet to the outside of the eyeball over the growth, designed to partly shrink and destroy the growth and if successful save most of the eye's sight. If the growth is detected in time, the patient is more likely to keep more vision. That is why it is imperative that a child suspected of having retinoblastoma must be treated as soon as possible by a retinal specialist who can attempt to examine the retina using iris dilation.
Other possible treatments include:-
- Chemotherapy (use of chemicals to reduce the mass of the tumour.)
- Laser therapy (Uses infrared laser light to precisely destroy the blood vessels surrounding a tumor.)
- Cryotherapy (use of a cold gas which is injected into the affected part of the retina in order to shrink the tumor in question.)
- Thermotherapy (A new technique used mainly in new testing. It uses the principle that if heat is applied to the affected area, a tumor will sustain more damage than healthy cells because healthy cells are more capable of cooling themselves down through the use of healthy surrounding blood vessels. if this technique is not immediately successful it will at least increase the chances of other treatments to succeed such as chemotherapy and focused radiation pellets.)
- Radiotherapy (Generally used as a last resort, radiotherapy was previously the treatment of choice before the above mentioned treatments were developed. Radiotherapy destroys cancerous growths through the use of gamma radiation. though it carries with it many drawbacks including the following. Secondary cancerous growths may present themselves either a few months or several years later(age 17-21 if treated as a newborn). Destruction of healthy cells in the area surrounding the treated tumor. Bone deformation due to the destruction of the growth plates. mainly in the area of the Temple (anatomy).)
[edit] References
- Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986;323:643-6. PMID 2877398.
- Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971;68:820-3. PMID 5279523.
- Retinoblastoma in a 26-year-old adult. Takahashi T, Tamura S, Inoue M, Isayama Y, Sashikata T. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6856254&dopt=Citation
- news.cornell.edu, "Retinoblastoma Research", Dr. David H. Abramson, New York-Presbyterian/Weill Cornell, http://www.news.cornell.edu/chronicle/04/2.5.04/Weill_retinoblastoma.html
- ncbi.nlm.nih.gov, Pub Med, Dr. David Abramson, Frank CM, Department of Ophthalmology, New York Hospital--Cornell Medical Center, New York, USA. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9544627&dopt=Citation
[edit] See also
[edit] External links
- Retinablastoma - Geneva Foundation for Medical Education and Research
- The National Cancer Institute's page on Retinablastoma
- Retinoblastoma International
- Genetests.org
- Retinoblastoma Genetics
- At What Age Could Screening Be Stopped
- Visual Fields in Retinoblastoma Survivors
- Building on a Legacy of Innovation and Collaboration: Better Treatments for Retinoblastoma