Retinoblastoma

__**Retinoblastoma: Colin Aitken, Victor Hagerstrom, Jalen Russell **__
 * 1. Causes: Autosomal or sex-linked ? Chromosome (which #?) or Gene mutation (which gene?) || Autosomal, chromosome thirteen. Chromosome thirteen is the chromosome that controls cell division, and this mutation causes the cells in the retina to divide indefinitely and very quickly. Specifically, the RB1 gene is mutated. ||
 * 2. What is the pattern of inheritance? || It can be genetic or non-genetic. There is a random mistake that occurs when the DNA on chromosome 13 is not copied correctly. When the retinoblastoma is germinal (see interesting facts), it appears as though the mutation is autosomal dominant. ||
 * 3. Statistics: || * Approximately 250 to 350 people are affected per year in the USA by retinoblastoma. Retinoblastoma a cancer of the retina, a part of the eye. It creates a large tumor very quickly, however, it is very rare. Only about 1 in every 15,000 births will have retinoblastoma.
 * Retinoblastoma accounts for 4% of cancer in kids younger than 15 years old.
 * It is typically found before the age of 5, however nine out of ten sufferers will survive into adulthood.
 * Retinoblastoma is a very treatable cancer. It has a survival rate of 95-98%, which is one of the highest of all cancers.
 * Bilateral retinoblastoma, which accounts for about one-third of all patients, is when tumors develop in both eyes. ||
 * 4. Characteristics: || * Crossed Eyes
 * When a picture is taken of the effected child, the pupil will appear white. Calle the "cat's eye reflex" or leukocoria Also, if photographic red eye appears in one eye and not the other, that could also be a sign.
 * Double vision
 * Eyes that do not align
 * Eye pain and redness
 * Poor Vision
 * Differing iris colors in each eye
 * Blindness can occur in the affected eye. The tumor can spread to the eye socket through the optic nerve. It may also spread to the brain, lungs, and bones. ||
 * 5. Treatments: || Treatment varies from country to country. The exact treatment will depend on the individual case. This is because the size, location, and quality of the tumor causes variations in treatments. Also, the priorities are to save the child's life, then their vision, and finally to minimize any complications. Treatment include: chemotherapy (administered locally through a catheter that is threaded through the groin or through the aorta and the neck into the optic vessels), cryotherapy (for smaller tumors), radioactive plaques, laser therapy, external beam radiotherapy, or surgery. If worst comes to worst, the eye may need to be removed. ||
 * 6. Prevention: || Genetic counseling helps to understand the risk of retinoblastoma. It is especially important when more than one family member has had the disease, or if the retinoblastoma occurs in both eyes. However, in approximately 55% of the patients, the condition is non-genetic, and seemingly completely random. ||
 * 7. Testing: || * Eye exam with dilation of the pupil that is looked into using an ophthalmoscope, checks for any structural abnormalities.
 * CT scan or MRI of the head
 * Ultrasound of the eye
 * Bone marrow biopsy and cerebrospinal fluid examination in the case of more aggressive tumors ||

http://www.topnews.in/health/files/eye-cancer.jpg http://jimbicentral.typepad.com/.a/6a00d8341c824e53ef010536c9f5e8970c-800wi

__ Interesting Facts/Statistics: __


 * There is a third, very rare type of retinoblastoma: trilateral retinoblastoma. In trilateral retinoblastoma, a tumor also develops on the pineal gland in addition to both eyes. Also called pinealoblastoma.
 * Inherited forms of retinoblastoma are more likely to be bilateral as opposed to unilateral.
 * When the gene mutation effects all of the body's cells, the mutation is called germinal retinoblastoma. Patients with this are at risk for other tumors to grow all over their bodies.
 * About 40% of all cases of retinoblastoma are germinal.
 * In non-germinal retinoblastoma, both copies of RB1 are either mutated or lost, causing retinoblastoma.

__ How will this disorder affect a person's quality of life? __

As the patient is normally very young (less than five years old) and retinoblastoma, the quality of life would not be affected much. The patient would not remember the traumatic event clearly, and would continue to live life after treatment like normal. The exceptions are: - Should the patient die, this would end their life and stop any chance of more life. - Should the patient loses sight in the eye affected with the tumor, that would detract from the quality of their life* as they can see out of only one eye. - Should the patient get bilateral retinoblastoma and lose sight in both eyes, the quality of their life would be greatly decreased* as they cannot see. - Should the patient be older than 5 (which is very rare), this event would be very traumatic and affect the patient's education and/or income, depending on age. This could cause a decreased quality of life*.


 * When a variation of the phrase "a decreased quality of life" is used, this does not mean that the patient will have a less enjoyable or fulfilling life than your average bloke. The handicaps that they acquire as a result of their skirmish with retinoblastoma have the potential to "decrease the quality" of their life, but that does not mean it has to. Any hurdle in life can be jumped, especially if you have a trampoline of supporters before it to help you over.

__ What can parents do/learn about to ensure a healthy happy life? __

Because the trait is not inherited from the parents in a tad over 50% of the cases, even if parents got genetic counseling, there is still a chance their child could get retinoblastoma. Overall, there's not much they could do to prevent their child from getting retinoblastoma. If one of the parents had it, then there would be a 50% chance that their child would get the disease. Parents could also learn the symptoms and signs of retinoblastoma so that should their child show them, they could get treatment as fast as possible to prevent blindness, as the majority of retinoblastoma patients survive to adulthood. However, screening for retinoblastoma should be part of a "well baby" screening that takes place within the first three months of the baby's life.

http://en.wikipedia.org/wiki/Retinoblastoma

 References: [|__http://en.wikipedia.org/wiki/Retinoblastoma__] [|__http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002025/__] [|__http://ghr.nlm.nih.gov/condition/retinoblastoma__] [|__http://www.nlm.nih.gov/medlineplus/ency/article/001030.htm__] http://www.ncbi.nlm.nih.gov/books/NBK22191/