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Retinoblastoma

In: Science

Submitted By dcspille
Words 1756
Pages 8
Dylan Spille
March 2, 2013
6th hour Pre-AP Biology
“Retinoblastoma Research Paper”
“Retinoblastoma”

Retinoblastoma is a cancer that develops in the retina, but can be cured with the right information and technology to help.

Retinoblastoma is a childhood cancer that forms in the retina. It is a progressive genetic disorder. The retina is the light sensitive part of the eye. The retina covers approximately 65% of the interior of the eye. In immature retinal cells, the cancer will develop in children from the time the eyes develop in the womb to 5 years of age. The tumor starts in the retina, the light sensitive layer of the eye, which allows the eye to actually see. “ It can occur in either one eye (unilateral) or two eyes (bilateral)”(Hulett, WashBurn, and Orenic). If the cancer is caught early, it is curable, but if caught late, it is deadly. That is why in developing countries, 87% of children worldwide with this genetic disorder will die. For developed countries, 97 % survive but will have moderate to severe visual impairment. Before enucleation was known to help retinoblastoma, it was incurable. It was considered incurable and death always occurred because inheritance patterns had not been established, leading back to more deaths. But in all actuality, the survival rate will drop with every decade of life when the patients have the genomic mutation. The genomic mutation is a gene mutation within every cell of the individual’s body. Those patients with that type of cancer have either bilateral disease or unilateral-multifocal disease. Those individuals have a predisposition for developing second cancers later in life. Retinoblastoma accounts for 3 % of cancer in children under the age of 15. (Cotton, Gartman, Ryan, 2) Retinoblastoma would fit into the category of a single gene defect. It is very sporadic and spontaneous. Most patients do no receive a gene defect from their parents. But 50% of survivors will pass on the gene to their children. Although it is rare, it is possible for it to spread from the to the brain, the central nervous system, and the bones. Many patients have minimal or no visible abnormality with their eyes. The list of factors that lead to discovering retinoblastoma in the patient are microcephaly, broad prominent nasal bridge, hypertelorism, microphthalmos, epicanthus, ptosis, protruding upper incisors, micrognathia, short neck with lateral folds, large, prominent, low-set ears, facial asymmetry, imperforate anus, genital malformations, perineal fistula, hypo-plastic or absent thumbs, toe abnormalities, and psychomotor and mental retardation. The list above is resulted from the deletion of 13q. Retinoblastoma was the first cancer to be directly related with a genetic cause. “90% of retinoblastoma patients have no family history of the disease and only 10% of newly diagnosed patients have other family members with retinoblastoma” (Hulett, WashBurn, and Orenic). The symptoms and signs of retinoblastoma are a white "glow" or "glint" in the pupil of one or both eyes in dim lighting, white pupil in a color photo, crossed or misaligned eyes. Another way to detect retinoblastoma is by taking a picture of someone’s eye. The white reflection on a photograph is called leukokoria, which is caused by the tumor blocking the cameras flash from reaching the retina. The last symptom is pain. In some cases, neovascular glaucoma can occur, causing pain for the child. If it is let long enough, it will cause enlargement of the eye, or buphthalmos. The longer the child has neovascular glaucoma and buphthalmos, the greater the risk of the retinoblastoma has of spreading. That is why knowing of prior family history of retinoblastoma is important. To diagnose retinoblastoma, the doctor will often check the “cats eye reflex” (article pg. 66). The cats eye reflex is caused by the reflection of the tumor though a dilated pupil. Although doctors use this method, an average person could test it on their own by just noticing a squint or even a red eye. Fatigue is a side effect or symptom that patients experience when they have cancer. Another side effect is nausea and vomiting. Another word for vomiting is emesis. When parents give birth to a child who is susceptible to retinoblastoma, regular check ups are given from the time of birth until the danger period has passed. The check ups are given under general anesthesia. Retinoblastoma can be inherited by two different ways. First, it disorder can be inherited by a family who already has had it. The second way is again a spontaneous occurrence. The cause of retinoblastoma is the deletion or a mutation of q14 band on chromosome 13. If a parent had retinoblastoma, there is a 50% chance of the child born to the parent to have it. To clear things up, the RB gene is a gene in the 13th chromosome that tells the cells to create a tumor suppressing protein. The tumor suppressing protein regulates unwanted and uncontrolled cell growth. So when a person has retinoblastoma, the chromosome is actually lacking the RB gene or it is no functioning properly, which then turns off the protein, allowing uncontrolled cell growth and division. Like mentioned above, retinoblastoma is entirely random unless a prior family member had it. That means that retinoblastoma does not occur in certain populations. It occurs randomly. Retinoblastoma affects children around the world, children of all ages, races, and genders. As of now, there are no environmental factors that affect retinoblastoma or might cause it. That means that there still may be environmental factors, it’s just none have been discovered yet. Many studies show that retinoblastoma occurs among the various geographic populations in a constant state. The greatest predictor of death with retinoblastoma is extra ocular extension, either directly through the sclera or through extension along the optic nerve. Retinoblastoma develops from a single affected cell in the retina and it is invisible at its inception. Later, a small white nodule is noted in the retina, but this is not visible to the parents and it does not affect the child at this point. With time, the tumor grows into a larger white vascular tumor that causes the child to painlessly lose vision and this can manifest with a drifting eye or an eye with a white or glassy-appearing pupil. Retinoblastoma occurs in approximately 1 in 15,000 live births, and it is estimated to affect approximately 250 to 300 children each year in the United States. The ratio of boys to girls is approximately 1.12:1. Worldwide, about 5,000 children develop retinoblastoma each year. The growth patterns for retinoblastoma can be subdivided into three groups. The three groups are intraretinal, endophytic, and exophytic. Intraretinal tumors are limited only to retina. They can’t grow or spread anywhere else. The second type is endophytic. Indophytic tumors start on the retina and grow into the vitreous cavity. An endophytic tumor is one of the main giveaways of retinoblastoma. It is classified as the white hazy mass with obscuration of the retinal blood vessels. Because of the spreading, an endophytic tumor can seed the vitreous cavity and anterior chamber and simulate toxocariasis: a parasitic disease found in children. Lastly, there are exophytic tumors. Exophytic tumors start at the retina and protrude into the sub-retinal area. These tumors are the cause of death when the tumors spread and infect the brain, spinal fluid, and other areas. It can also resemble Coats disease. When a child has retinoblastoma, there is a hierarchy at play. The most important goal is survival, then preservation of the eye, and lastly, visual acuity. There are many treatments available for retinoblastoma. The first treatment is enucleation. Enucleation was the most common form of treatment when retinoblastoma was first discovered. Enucleation is the removal of the eye. It is the most common treatment at a last resort because it rids the cause of cancer reforming in the eye. During surgery, the eyebrows, lids, and eye muscles are left in place. And the whole operation takes about an hour. In cases where both eyes are affected, the ‘worse’ eye is removed. When the eye is removed, it is usually filled with a plastic, rubber, or coral ball. One of the oldest forms of treatment is External beam radiation that has been used since the 1900’s. It is still used as one of the better ways to save the eyes and vision from failing, although there are some major side affects. The radiation is preformed 5 times a week through 4 weeks. “When external beam radiation is given, some of the side effects may be cataracts, radiation retinopathy, impaired vision, and temporal bone suppression” (Cotton, Gartman, Ryan, 3). One of the more effective treatments is laser therapy. Laser therapy is also known as photocoagulation or laser hyperthermia. It is a non-invasive treatment and very effective at destroying the cancer tissue. Laser therapy is achieved by aiming a laser through the pupil and onto the cancer in the eye. There is no post-operational pain and recovery time is quick and speedy. Another form of treatment is chemoreduction. Chemoreduction is a method used to reduce the tumor volume for more effective measures that are more focused and less damaging to the eye. Chemoreduction is currently the initial management for retinoblastoma. Along with the treatments listed above, there are brachytherapy, cryotherapy, chemotherapy, and chemothermotherapy. The type of treatment depends on the size, number, and the location of the tumor. The treatments are progressing as the world’s technology increases. For instance, “ With the use of chemotherapy, some eyes are being saved the would have been enucleated only 5 years ago (Carollo and Bolling 3). In conclusion, retinoblastoma can be devastating. It will affect that children’s life forever and will even affect their children’s lives. Without treatment, the child will die within 4 years of life. Timing is everything with this disease. But since treatments are becoming more available and advanced, survival rates are ever so rising.

Bibliography

Bolling, James, and Thomas Carollo. "Retinoblastoma." N.p., Sept. 2000. Web. 7 Mar. 2013.

Cotton, Mario, Kristin Gartman, and Kristen Ryan. "Retinoblastoma." Stephen F., n.d. Web. 8 Mar. 2013.

Hulett, Linda, Linda Washburn, and Jennifer Orenic. "Retinoblastoma." N.p., July 2007. Web. 8 Mar. 2013.

"Problems of Retinoblastoma." British Medical Journal (1972): 67. Web. 9 Mar. 2013.

Shields, Carol L., and Jerry A. Shields. "Diagnosis and Management of Retinoblastoma." Cancer Control Sept. 2004: 317-22. Web. 8 Mar. 2013. Wong, Lennie, and John Boice. "Cancer Incidence after Retinoblastoma." JAMA Network 278.15 (1997): n. pag. Web. 9 Mar. 2013.

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