- Retinoblastoma
DiseaseDisorder infobox
Name = PAGENAME
ICD10 = ICD10|C|69|2|c|69
ICD9 = ICD9|190.5
ICDO = ICDO|9510|3
Caption =Leukocoria of right eye indicating presence of tumor
OMIM = 180200
MedlinePlus = 001030
eMedicineSubj = oph
eMedicineTopic = 346
DiseasesDB = 11434
MeshID = D012175
Retinoblastoma is acancer of theretina . Development of this tumor is initiated bymutation s [cite journal |author=Knudson A |title=Mutation and cancer: statistical study of retinoblastoma |journal=Proc Natl Acad Sci U S A |volume=68 |issue=4 |pages=820–3 |year=1971 |pmid=5279523 |doi=10.1073/pnas.68.4.820] that inactivate both copies of the "RB1 " gene, which codes for theretinoblastoma protein . [cite journal |author=Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T |title=A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma |journal=Nature |volume=323 |issue=6089 |pages=643–6 |year= 1986|pmid=2877398 |doi=10.1038/323643a0]Treatment
Until recently the only treatment was to remove the affected eyeball before the cancer spread. Chemotherapy is the treatment of choice for most unilateral cases. However, with locally advanced disease, external beam radiation may be needed, and if both eyes are involved,
enucleation may be the only option. Affected children in developing countries present with advanced features and usually die of metastatic spread. In its initial stages, retinoblastoma is very similar toCoats' disease , a non-cancerous retina disease. Coats' disease should be ruled out before enucleation is done. A mis-diagnosis of retinoblastoma accounts for the greatest number of Coats' disease eyes being enucleated.Many children with bilateral retinoblastoma can be treated with a preservation attempt. Tumor chemoreduction with
carboplatin and other drugs may reduce the tumor volume making them amenable to local therapies [cite journal |author=Dunkel IJ, Lee TC, Shi W, Beaverson KL, Novetsky D, Lyden D, Finlay JL, McCormick B, Abramson DH. |title=A phase II trial of carboplatin for intraocular retinoblastoma |journal=Pediatr Blood Cancer. |pmid=17301956 |doi=10.1002/pbc.21163 |year=2007 |volume=49 |pages=643 ]Local therapies include-
*
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 to shrink the tumor.)
*Thermotherapy (A relatively 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 can cool themselves better using healthy surrounding blood vessels. If this technique is not immediately successful it may increase the efficacy of other treatments such as chemotherapy and focused radiation plaques.)
*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 using gamma radiation or x-ray radiation but it carries with it many drawbacks, including:-
** Possibility of secondary cancerous growths which present themselves months or years later.
** 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.)It is important that children with retinoblastoma are treated in specialist centers.It is considered to be one of the most common inherited cancer syndromes.
Brachytherapy with beta-emitting eye applicators have also been a successful major treatment.BEBIG (GmbH-Berlin-Germany) produces various kinds ofruthenium ophthalmic applicators for treating retinoblastoma.Causes
In October 2007, researchers identified the specific cell that causes retinoblastoma. [cite web |url=http://www.sciencedaily.com/releases/2007/10/071018123509.htm |title=Specific Cell That Causes Eye Cancer Identified, Disproving Long-held Theory |date=2007-11-08 |format= |work=Science Daily|accessdate=2008-09-27] [cite journal|last=Ajioka |first=Itsuki |coauthors=Rodrigo A.P. Martins, Ildar T. Bayazitov, Stacy Donovan, Dianna A. Johnson, Sharon Frase, Samantha Cicero, Kelli Boyd, Stanislav S. Zakharenko, and Michael A. Dyer |date=October 19, 2007| title=Differentiated Horizontal Interneurons Clonally Expand to Form Metastatic Retinoblastoma in Mice| journal=Cell| volume=131|issue=2|pages=378 - 390
pmid=17956737 |pmc=PMC2203617 |doi= 10.1016/j.cell.2007.09.036 |url=http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2203617|accessdate=2008-09-27]ee also
*
Eye cancer
*Eye examination
=AdditionalReferences
External links
* [http://www.chect.org.uk The Childhood Eye Cancer Trust] A charity for families and individuals affected by retinoblastoma. We offer support and information, fund research and raise public awareness of this rare cancer.
* [http://www.cancer.gov/cancer_information/cancer_type/retinoblastoma/ Retinoblastoma] atNational Cancer Institute
* [http://www.ukoptometry.co.uk/uncategorized/2008/01/22/sophie%e2%80%99s-retinoblastoma Sophie's Retinoblastoma ]
* [http://www.retinoblastoma.net/ Retinoblastoma International]
*GeneTests|retinoblastoma
* [http://rb1-lsdb.d-lohmann.de/ Retinoblastoma Genetics]
* [http://bjo.bmj.com/cgi/content/full/84/10/1170/ At What Age Could Screening Be Stopped]
* [http://archopht.ama-assn.org/cgi/content/abstract/122/9/1324/ Visual Fields in Retinoblastoma Survivors]
* [http://www.mskcc.org/mskcc/html/62459.cfm Building on a Legacy of Innovation and Collaboration: Better Treatments for Retinoblastoma]
*cite journal |author=Abramson D, Frank C |title=Second nonocular tumors in survivors of bilateral retinoblastoma: a possible age effect on radiation-related risk |journal=Ophthalmology |volume=105 |issue=4 |pages=573–9; discussion 579–80 |year=1998 |url=http://www.ncbi.nlm.nih.gov/pubmed/9544627 |pmid=9544627 |doi=10.1016/S0161-6420(98)94006-4
* [http://webeye.ophth.uiowa.edu/eyeforum/atlassearch1.htm Photographs of patients with far-advanced clinical manifestations of retinoblastoma. Type retinoblastoma into the Diagnosis space and click on the Run Query space to view the photographs contained in the University of Iowa Eye Atlas]
* [http://retinoblastomafocus.com Retinoblastoma Focus - Positive Resources for Dealing with Retinoblastoma ]
* [http://geelen.com.au/feature-articles/kids/ Stories about children who have lost an eye]
* [http://janetshaw.com/ Janet Shaw, Retinoblastoma Survivor and Medallist at Athens Paralympic Games]
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