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Retinoblastoma
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  • 1. Retinoblastoma: A Patient’s Guide
    • The science of it, its symptoms, how it works, how to cure it, and where to get help.
  • 2. What is Retinoblastoma?
    • It is a rapidly-growing childhood cancer in the eye, specifically in the retina.
    • There are two types: a genetic, inheritable type, and a non-genetic, not inheritable type. Neither of them is significantly more common than the other.
    • Fortunately, retinoblastoma is one of the most curable forms of child cancer, with a survival rate of over 95%.
    • While in most cases, only one eye is affected, there is approximately a 30% chance that both eyes will be affected.
  • 3. What are the symptoms?
    • The most obvious and common symptom is leukocoria, which is an unusual, yellowish-white reflection of the pupil.
    • Any sort of deformation or defect in the eye can be a sign of retinoblastoma, although these can be caused by many other things.
    • Cross-eyedness can also sometimes be caused by retinoblastoma.
    • Eye irritation and deterioration of vision can also be caused by retinoblastoma, although they are not exclusively caused by it.
  • 4. How to detect it
    • A simple eye exam is usually enough to detect retinoblastoma, although a more thorough examination is usually necessary to confirm its presence.
    An ophthalmoscope, commonly used during eye exams to, among other things, check for eye cancers such as retinoblastoma. More complex methods, such as retinal scans (result shown here), are often necessary to confirm the existence of retinoblastoma .
  • 5. How to treat it
    • Treatments for retinoblastoma are similar to those of other cancers; chemotherapy and radiation treatment.
    • Cryotherapy (killing off cancerous cells by exposing them to extremely low temperatures) and various laser treatments are also used.
    • In extreme cases, the eye may be surgically removed to prevent further spread of the cancer.
    The equipment used for cryotherapy, a common treatment for cancers, including retinoblastoma.
  • 6. Inheritance
    • 90% of children who develop retinoblastoma are the first in their family to develop it. The other 10% inherit it.
    • When it is inherited from parent to child, it is normally bilateral.
    • It is caused by a part of chromosome 13 being deleted.
    • In 40% of all the cases, the disorder is present in every body cell, in the other 60%, it is only present in the eye.
    • If a parent had bilateral retinoblastoma, around 45% of their kids will develop retinoblastoma and the vast majority of these kids will have it in both eyes.
  • 7. Inheritance Continued
    • When retinoblastoma is present in all body cells, it is inherited in an autosomal dominant pattern.
    • This means that only one copy of the altered gene is needed to cause cancer.
    • If a parent had unilateral retinoblastoma, the chances of their children having retinoblastoma are 7% to 15%.
    • It can even be developed in now of the parents have had it.
  • 8. Impact on Living
    • Most people that have retinoblastoma get cured and have 20/20 vision again. They can then live a fairly normal life.
    • They do have an increased risk of cancer and should go to the doctor for regular check ups and screenings.
    • Some patients may however lose either one or both eyes and become visually impaired.
    • The patient might have to go through chemotherapy treatments.
    • Retinoblastoma is a life-threatening disease, but it is rarely fatal.
  • 9. Fun Facts
    • Retinoblastoma was documented in children more than 2,000 years ago.
    • More than 95% of patients treated for retinoblastoma in the U.S. are cured.
    • More than 80% of the children keep 20/20 vision.
    • More than 90% of patients retain at least one eye.
    • Complete blindness is unusual in children who have been successfully treated for retinoblastoma.
    • Surprisingly, in spite of the fact that retinoblastoma is caused by a defect in a protein that prevents cancer throughout the body, the mutation only causes cancer in the eye.
  • 10. Pedigree
    • http://galenet.galegroup.com/servlet/HWRC/FSImage?fsimg=00115157&docNum=DU2699002318&tcit=1_1_1_0_0_1&index=BA&locID=lom_inac&rlt=1&origSearch=true&t=RK&s=1&r=d&items=0&secondary=false&o=&n=10&l=mi&sgPhrase=true&searchTerm=2NTA&c=3&bucket=ref&SU=retinoblastoma
  • 11. Likelihood
    • http://retinoblastoma.com/retinoblastoma/frameset1.htm
  • 12. What causes it?
    • The gene is known as RB1, which stands for retinoblastoma 1.
    • It codes for the production of the pRB protein, which is a tumor suppressor. Its purpose is to control the replication of cells, and keep them from replicating too quickly, which is what cancer essentially is.
  • 13. Additional Information
    • http://ghr.nlm.nih.gov/gene/RB1
    • This is a good site for some general info about the disease. It will provide much of the same information that was given here.
    • http://www.cancer.gov/cancertopics/types/retinoblastoma
    • The National Cancer Institute’s site about retinoblastoma. Gives info about the disease, as well as treatment options. There is plenty of info about retinoblastoma research, links to studies, and the like.
  • 14. Additional Links
    • http://retinoblastoma.com/retinoblastoma/frameset1.htm
    • "Retinoblastoma." Lisa Andres, M.S., C.G.C. and Rebecca J. Frey, PhD The Gale Encyclopedia of Cancer: A Guide to Cancer and Its Treatments. Ed. Jacqueline L. Longe. 3rd ed. Detroit: Gale, 2010. 2 vols.
    • "Retinoblastoma." Edward R. Rosick, DO, MPH, MS. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
    • http://ghr.nlm.nih.gov/condition/retinoblastoma