During childhood, it is quite common for a child to develop retinoblastoma. This cancer affects the retina, the light-sensitive tissue located at the back of the eye. Its symptoms include vision problems, redness of the eyes, and pain. However, there are several treatment options that are available to children with this disease.
Treatment
During the early stages of development in the womb, a child’s genes can change and lead to retinoblastoma. The disease is caused by mutations in the RB1 gene. The disease is characterized by tumors on the retina and nerve cells. There are a variety of treatments for the disease, including radiation therapy, cryotherapy, and surgery. Depending on the tumor’s size, position, and location of the recurrence, the treatment will vary.
Retinoblastoma is the first type of eye cancer in children. It is usually diagnosed in the first year of life. However, in some cases, it may be diagnosed at an older age. In these cases, special treatments are used to treat the child’s cancer.
For a child with a large tumor, radiation therapy is used. The doctor uses a machine that emits radiation to target the tumor. These treatments can damage the optic nerve and cause vision problems later in life. In some cases, radiation therapy can be combined with chemotherapy to improve the chances of destroying the tumor.
Thermotherapy is another treatment for retinoblastoma. This technique is also called transpupillary thermal therapy. It causes the iris to shrink, which can help other treatments work better. Thermotherapy also has the potential to affect the blood vessels in the retina. In some cases, it can cloud part of the eye lens and interfere with vision. It is most often used in combination with chemotherapy.
A genetic test is helpful to determine if retinoblastoma is inherited. About 15% to 20% of children with the disease have a family history of the disease. If it is inherited, it can lead to multiple tumors in the child. It is important to know if a child has a faulty gene so that medical studies can be conducted after treatment.
A blood test can be done to diagnose the presence of the RB1 gene defect in newborns. These babies have a faulty gene that causes bilateral retinoblastoma. During the first few weeks of the baby’s life, a child’s immune system is unable to fight off the tumor. The RB1 gene is found in both parents. If a child has one copy of the RB1 gene, he or she has a 50% chance of developing retinoblastoma.
Diagnosis
Approximately 1 in 147223 children born each year will be diagnosed with retinoblastoma. It is the most common primary intraocular malignancy of childhood. Detection and treatment can be lifesaving. The treatment options include enucleation, chemotherapy, and focal therapy. Despite improvements in early diagnosis and treatment, the cost of these treatments continues to be unaffordable for most families.
To better understand the incidence of eye tumors in children, we analyzed prospective data from a binational multicenter observational study. Malignant eye tumors were classified based on clinical presentation and the presence of underlying tumor predisposition syndrome.
Our analyses characterized the prevalence and clinical presentation of malignant eye tumors in children. In addition to retinoblastoma, other eye tumor entities were found to have a high prevalence of underlying tumor predisposition syndrome.
The prevalence of eye tumors in children was higher than previously reported. The overall number of cases was higher than the expected incidence based on annual birth rates. However, the proportion of patients referred to specialized centers was lower than expected. This may be due to a lack of access to healthcare facilities.
Children with retinoblastoma were treated at specialized clinics in Austria and Germany. In Austria, there was a prevalence of heritable retinoblastoma of 2.3% and unilateral disease in 60% of patients. In Germany, there were 57 children with retinoblastoma per year, with heritable retinoblastoma being diagnosed in 5% of the children. In both countries, bilateral retinoblastoma was more common than unilateral. The median age at diagnosis was two years for bilateral disease.
The sex ratio of retinoblastoma patients was 1.1. In Germany, retinoblastoma was diagnosed in 57% of children with a family history of retinoblastoma. This was a statistically significant increase compared to the prevalence of familial retinoblastoma in the country.
The sex ratio of a child with unilateral retinoblastoma is also lower than the sex ratio of children with bilateral disease. This may be because of a misdiagnosis of unilateral disease. In Germany, there is a broader spectrum of eye tumors, with more children diagnosed with uveal melanoma, ciliary body medulloepithelioma, retinoblastoma, and ocular sarcoma.
Stages
Almost all children with retinoblastoma have a genetic abnormality that causes it. It is most common in infants and young children, but can also occur in older children. The risk of a second tumor is high for children with hereditary retinoblastoma. It is important to follow a healthy lifestyle, including wearing sunscreen and avoiding tobacco products. It is best to have regular physical examinations and screening tests in childhood.
The main aim of treating retinoblastoma is to destroy the tumor. This may be done through surgery or chemotherapy, depending on the location and stage of cancer. In rare cases, the disease may spread to other parts of the body. If cancer has spread, it can cause loss of vision or damage to the optic nerve.
In addition to regular testing, some children may undergo additional tests to see if cancer has spread to other parts of the body. For example, a lumbar puncture (spinal tap) is performed to look for cancer cells in the spinal fluid and bone marrow. These tests are performed under general anesthesia. An MRI may be used to determine the location of the tumor.
Children who have a hereditary form of retinoblastoma have an increased risk of developing secondary tumors, such as a pineal tumor in the brain. It is important to be vigilant for any unexplained aches and pains. In some cases, a child with retinoblastoma will have regular MRI screening, so that a doctor can check for any changes in the chromosomes.
Using radiation therapy, the doctor may try to kill the cancer cells. The patient will be given a metal shield to keep the radiation away from the healthy cells of the eye. The radiation is delivered through the metal shield and stays on for 5-7 days. After the treatment, the child will be discharged. This can be a temporary solution to the problem.
In addition to the treatments above, the doctor may want to remove the eye. If this is done, an artificial eyeball will be fitted in the child’s eye socket.
Symptoms
Symptoms of retinoblastoma in children vary but can include white or inflamed eyes that hurt or are sensitive. These eye disorders are also associated with loss of vision and neurological impairment.
Retinal tumors occur in the back of the eye, along the light-sensitive lining of the eye. The retina is a thin layer of nerve cells that senses light and transmits information to the brain through the optic nerve. This is the primary way that a child can see.
A patient’s ophthalmologist may order an ultrasound scan of the eye to determine if there is a tumor. The ophthalmologist will then refer the child to a specialist center. The ophthalmologist will perform the scan under general anesthesia, which prevents the child from feeling any pain during the exam.
The pediatric ophthalmologist will then perform an examination of the retina to determine the exact location of the tumor. A biopsy may be necessary to confirm the presence of a tumor. The tissue sample is then analyzed under a microscope. This can reveal whether cancer has spread to the bones or lymph nodes. The samples can also be checked for cancer cells in the spinal fluid.
Depending on the size of the tumor, treatment may be recommended. These treatments can include cryotherapy, which uses extreme cold to destroy cancer. Radioactive plaque therapy, which uses radiation to destroy cancer, is also sometimes used.
Other treatments are chemotherapy, which is given through a vein. These drugs are meant to prevent cancer from multiplying and destroying the body’s normal cells. If a tumor is found in the unaffected eye, the doctor may prescribe chemotherapy to prevent the growth of the tumor in that eye. The doctor will also test the child’s blood for any signs of kidney or liver problems.
If the tumor is too large, the doctor may have to remove part of the eye. He may also need to insert an artificial eyeball in the eye socket.
The doctor will also determine if the retinoblastoma is hereditary. Hereditary retinoblastoma is a genetic disorder that occurs when a child inherits a gene that is faulty. This can be inherited from both parents. It can also be caused by a gene mutation in the womb.
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