sick+genes+retinoblastoma

Retinoblastoma is a rare malignant retinal tumor that usually affects children.

__SYMPTOMS__ The symptoms of this rare tumor is for a white glow in the eye to appear in a picture instead of the red eye. A few other symptoms are
 * white spots in the pupil
 * a red eye
 * crossed eyes
 * poor vision

__CHROMOSOME/ GENE AFFECTED__ The chromosome 13 is the one that gets affected from this tumor and the retinoblastoma is caused because of abnormalities in the RB1 gene which is in the chromosome 13.



__TYPE OF INHERITANCE__ Retinoblastoma can be both recessive and dominant. It is recessive because it takes the RB1 gene to be mutated and inactivated in chromosome 13. it can be dominant because the child may have gotten it form one of the parents while it was being formed. The retinoblastoma is not sex linked therefore it is autosomal which is why it can either be recessive or dominant.

__CAUSES__ The protein that is affected is the oncogenic protein because that protein binds and inactivates pBr which can lead to cancer.Retinoblastoma is caused by mutations of genes. Scientists have found that a person's DNA can cause cells of the retina to become cancer.

__EPIDEMIOLOGY__ Age, gender nor ethnicity increase the possibilty of that person to have it. Most of the time one out of 18,000-30,000 newborns world wide have retinoblastoma. Although it is more likely for a one or two year old to get retinoblastoma or is more likely to be found in a child under the age of five years of age. It can occasionally occur to an adult though.

__DIAGNOSIS__ Retinoblastoma can be diagnosed by an eye doctor for a childs first visit. The doctor will immediately find out if the child had retinoblastoma because when they shine a light in their eye a white spot will appear in the pupil of the eye. The childs eye may also start hurting and will get red, or they may seem crossed eyed.

__PROGNOSIS__ People that have germline disease tend to have bilateral or multifocal tumors. Also people that have retinoblastoma can become cross eyed because of it or the cancer might spread all around if it is not cured early.

__TREATMENTS__ Yes there are cures for this rare cancer, that usually appears in children, if the child is taken early then the doctors will most probably be able to get rid of it with no problem. The treatments that the doctors can preform are cryotherapy, photocoagulation, thermotherapy, plaque radiotherapy, radiation therapy,chemotherapy and enucleation which is mostly used. Either one of these therapies will help the child or adult get rid of the cancer. The doctors say that it is alot easier to be able to get rid of cancer from one eye that from both if the case is with both of the eyes. The doctors goal is to stop the spreading of the cancer and then to get rid of the cancer itself.

__FACTS__ One of the therapies used to get rid of the cancer which is the enucleation (is mostly used when only one eye is damaged) is when they have to take out the actual eye ball of the person in order to be able to get the cancer out of the eye permanently. If the cancer has not been treated and has been there for a while it can spread, that stage is called extraocular retinoblastoma, when the cancer has spread all over. It usually first spreads to the tissues surrounding it and it may go back to the eye which is called a recurrent cancer but then may spread again to the tissue or to any part of the body.

__RESEARCH OUTLOOK__ Scientists are now figuring out how DNA changes which then causes it to become cancerous. They are still using the same therapies that they found out about a decade ago but in a few years now they are hoping that they can find faster working treatments for the retinoblastoma.





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