Eye Resources: What is Retinoblastoma?

CT scan of a child aged 8 showing retinoblastoma eye tumors (light areas)

Retinoblastoma is an unusual cancer that is present in one or both eyes of a child. It is hereditary in nature, which is caused by a genetic defect in retina. In the first few years, the eye grows rapidly. Sometimes during this rapid growth period, cells within the eye grow abnormally and the disease begins to develop. Some of the common symptoms of retinoblastoma include white spots in the pupil, painful eye, crossed eyes, and poor vision, besides others. Each year in the United States, 300 new cases occur. The disease affects 1 in every 15,000 to 17,000 children. The cure rate of this disease is above 95% in the developed world. The average age of occurrence of retinoblastoma in children is 18 months. Most often the disease occurs in children younger than 5.

What is Retinoblastoma: Comprehensive information on retinoblastoma including causes, symptoms, diagnosis, the stages of retinoblastoma, and treatment options.

Retinoblastoma Overview: Detailed information about the disease including how common is the disease, will it spread to other organs of the body, causes, symptoms, treatment and care, research and innovation related to the disease.

Intro to Retinoblastoma: Brief information on the disease including causes, what kind of vision do people have who have retinoblastoma, and what will help you if you have retinoblastoma.

About Retinoblastoma: Detailed information on retinoblastoma including how does retinoblastoma develop, hereditary and sporadic retinoblastoma, and more.

Retinoblastoma Guide: A guide for parents of children receiving treatment for retinoblastoma including information about the disease, diagnosis, grading and staging, and treatment measures.

The retinoblastoma gene (RB1) is a specific tumor suppressor gene, which is present in every cell (one pair of genes) of the body. The tumor suppressor gene encodes a protein that controls cell division. When the gene is not active, cells divide out of control. Therefore, retinoblastoma occurs in children only when the retinoblastoma gene fails to make the protein responsible for controlling cell division, as a consequence, the photoreceptor cells in the retina multiply rapidly and form a tumor. Retinoblastoma will only occur when both the retinoblastoma genes within a retinal cell are lost or altered.

Who gets Retinoblastoma: Detailed information on who gets the disease including the chances of other children having RB gene, treatment options such as removal of the eye, radiation therapy, laser treatment, chemotherapy, and more.

There are two diverse kinds of retinoblastoma: hereditary and sporadic. In the former case, the disease runs in the family. Sometimes it becomes difficult to differentiate which disease a patient has, and therefore, doctors might use a genetic test to differentiate if the disease is hereditary or sporadic (non-hereditary). It has been found that 30 to 40 percent of the retinoblastoma cases are hereditary in nature. In addition, hereditary retinoblastoma occurs at an earlier age and a child becomes more susceptible to developing tumors in other regions of the body. The disease passes from the parent to the child, however, only 25 percent of hereditary retinoblastoma have a positive family history, but it is more likely bilateral in nature i.e., it affects both eyes. In most of the cases, hereditary retinoblastoma occurs due to mutations or inheritance from parents who carry defective gene.

Hereditary retinoblastoma: Detailed information on retinoblastoma and hereditary retinoblastoma in particular.

Sporadic retinoblastoma: Comprehensive information on retinoblastoma including sporadic (non-hereditary) retinoblastoma, how it is diagnosed, and treatment measures.

It is true that life is not always fair with everyone. It’s definitely a painful event when a child is diagnosed with cancer; however, it is important that if a child is at risk of having retinoblastoma then he or she must be diagnosed by a team of specialist doctors. Children with this unusual eye cancer need advanced medical testing as well as management to make certain the cure of the cancer with prevention of the greatest amount of vision. In addition to advanced medical examinations, diagnostic procedures include complete eye examination; Fundoscopic examination, is performed when pupils are dilated to view and examine the entire retina. Computed tomography scan, also called, CT or CAT scan is done to produce cross sectional images, both vertically and horizontally of the body. MRI (Magnetic Resonance Imaging) is also done to produce images of organs and structures within the body. Moreover, blood tests, tests of the fluids surrounding the tumor, and genetic tests are performed, if needed.

Diagnosis, however, must be performed before symptoms are shown. For example, if a family is having positive history of retinoblastoma, frequent eye examination must be performed at many stages of a child’s development in order to determine the presence of any tumor. During diagnosis, the size, number, and location of the tumors are determined.

Retinoblastoma Diagnosis: Detailed information on how diagnosis is done including specialized testing, imaging studies, ultrasound, bone marrow and lumbar picture, etc.

Retinoblastoma Epidemiology: Brief information on retinoblastoma epidemiology, clinical forms, clinical presentation, evaluation/diagnosis, and treatment.

Retinoblastoma is both hereditary and non-hereditary disease. If the defective gene (RB1) is running in a family then there is 50 percent chance that the child will have the disease. So, in case of hereditary retinoblastoma children are at high risk of the disease as compared to sporadic type. In addition, children less than 5 years old are at high risk of developing retinoblastoma.

Retinoblastoma Risk Factors: Detailed information on retinoblastoma and risk factors including definition, causes, risk factors, symptoms, diagnosis, and different treatment measures.

There are a variety of therapies available against retinoblastoma including surgery, cryosurgery (use of extreme cold to kill cancer cells), radiation therapy, and chemotherapy (use of drugs to destroy cancer cells); however, treatment depends on the stage of the disease as well as the age of the child. Surgery is considered as the most common treatment measure for retinoblastoma. There are different stages of treatment, for example, if the child is having retinoblastoma in one or two eyes, but have not spread to tissues around the eye then surgery, radiation therapy (utilizes high-energy X-ray to kill melanoma cells) and photocoagulation (it is a thin beam of light to destroy blood vessels that feed the tumor caused by the cancer) is performed. In the second case, when retinoblastoma cells have spread to tissues around the eyes – radiation therapy is followed by intrathecal chemotherapy and the finally systemic chemotherapy is given. If the cancer has not extended beyond the eye, the disease can be cured completely; however, it may require advanced treatment measures. On the other hand, if the cancer has extended beyond the eye, there is low chance of a cure. In addition, some preventive measures can be taken such as genetic counseling so that families can understand the risk of the disease. It is more important when the gene is running in the family.

Retinoblastoma Treatment: Detailed information about retinoblastoma treatment including stages and treatment, recurrent retinoblastoma and more.

Retinoblastoma treatment options: Detailed information on retinoblastoma and treatment options including stages of retinoblastoma, recurrent retinoblastoma, treatment options overview, and more.

Retinoblastoma is a very uncommon disease. In the United States, 300 new cases occur every year. The average age of occurrence of retinoblastoma in children is 18 months and most often the disease occurs in children who are below 5 years old. The disease occurs equally in both genders i.e., boys and girls and in different races and ethnicities.

An eye cancer, as the name suggests is a cancer of the eye. There are two distinct categories of eye cancers such as primary intraocular cancers and secondary intraocular cancer. Primary intraocular cancers occur within the eyeball in adults, and melanoma is considered as the most widespread intraocular cancer; however, retinoblastoma is found only in children below five years of age. Secondary intraocular cancer on the other hand, occurs somewhere else and then spreads to the eye. In addition, orbital and adnexal cancers develop from tissues such as nerves, muscles, and skin around the eyeball and other parts of the body, for example, cancer of the eyelid, which is commonly described as skin cancer.

Different eye cancers: Brief information on different eye cancers such as primary intraocular cancers, and secondary intraocular cancers.

Eye Cancer: Brief information on eye cancers such as retinoblastoma and others.

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