Among the common childhood cancers is retinoblastoma, which is characterized by a tumor that grows rapidly in the retina, the light-sensitive tissue at the back of the eye. The most common symptom is loss of sight, but retinoblastoma can also cause bleeding and ulcers in the eye. The treatment for retinoblastoma includes surgery and radiation.
Trilateral retinoblastoma
Unlike ocular retinoblastoma, trilateral retinoblastoma is characterized by an intracranial tumor. However, most patients with this tumor do not have optic nerve involvement. It is thought to be caused by germline mutations in the RB1 gene. The ophthalmic prognosis is poor. The survival time from diagnosis to death is usually less than 10 months.
In contrast to ocular retinoblastoma, which is often sporadic, trilateral retinoblastoma usually has a familial etiology. Although a family history of retinoblastoma is present in about 68% of children with bilateral retinoblastoma, it is rare for trilateral retinoblastoma to be identified in this population.
The most important predictors of trilateral retinoblastoma include family history, age, and type of tumor. The incidence of this disease is estimated to be lower than it has been previously reported. It is also estimated to be much lower after adjusting for small sample sizes in previous studies.
There have been three new case reports of trilateral retinoblastoma. The incidence of this condition decreased after the year 1995. These decreases could be partially explained by the use of chemotherapy and radiotherapy.
Trilateral retinoblastoma occurs in patients who have a germline mutation in the RB1 gene. However, there is still uncertainty about the origin of these tumors. Some believe that they are related to the pineal gland, which has similar photoreceptors as the retinal photoreceptors. Another hypothesis is that the retinoblastoma cells have undergone greater differentiation.
Most patients with trilateral retinoblastoma die of metastatic disease within a few months of diagnosis. In developing countries, the majority of these cases are fatal. The disease is often diagnosed late in life because of a lack of disease awareness. It is also possible that patients with asymptomatic trilateral retinoblastoma are false positives.
In addition to the diagnosis of trilateral retinoblastoma, the patient may develop an associated midline intracranial tumor. The presence of a second midline tumor, called quadrilateral retinoblastoma, is considered to represent multifocal disease. The absence of leptomeningeal metastases is associated with improved survival.
MRI is important in the diagnosis of trilateral retinoblastoma. Two studies have evaluated radiologic findings in patients with trilateral retinoblastoma. In one study, the axial contrast-enhanced T1WI demonstrated multiple RBs in both eyes. In the other, the suprasellar mass showed diffusion restriction in DWI.
Symptoms
Symptoms of retinoblastoma can include a white pupil, wayward lazy eye, cross eyes, headache, and vision changes. This disease can also affect the pineal gland, which is located in the brain. Usually, retinoblastoma begins in the retina, which is a thin layer of nerve tissue behind the pupil. It senses light, converts it into neural signals, and sends them to the brain.
If retinoblastoma is not detected in the early stages, it is harder to treat. In some cases, cancer may spread to other parts of the body, such as the spinal cord or bone marrow.
Treatment of retinoblastoma will depend on the size of the tumor. It may involve surgery, radiation, or chemotherapy. The aim of these treatments is to destroy the tumor. If the retinoblastoma has not spread, 98 percent of children who have the disease are cured. If it has spread to the brain, however, there is a chance that the affected child will be affected by the loss of appetite, bone pain, and movement problems.
The first sign of retinoblastoma is a white pupil. In some cases, the pupil will be red or inflamed. This is due to the reflection of the retina’s blood vessels. In other cases, the pupil will be normal, but the iris will be different colors. In this case, a special instrument called an ultrasound probe will be used to scan the eye.
The second most common symptom of retinoblastoma occurs when the patient’s eye has difficulty moving. This can cause a child to have a lazy eye, squint, and cross eyes. It is a good idea to take your baby to an eye specialist for an examination.
Other symptoms of retinoblastoma are vision changes, such as a wayward lazy eye or a red or inflamed eye. Occasionally, cancer can spread to the brain along the optic nerve. The disease can also affect the brain’s pineal gland, which regulates sleep cycles. This condition is known as hereditary retinoblastoma.
In children, retinoblastoma is most likely to occur before age two. It can also occur in people with normal eyes. A gene mutation can trigger the development of the tumor. The gene is responsible for controlling the growth of cells. When it is mutated, it causes the cells to grow uncontrollably.
Diagnosis
Usually, retinoblastoma is detected before it has the chance to grow. It is caused by genetic mutations in the light-sensing cells in the back of the eye. It may affect both eyes or only one. This condition is often fatal. It occurs in about 3 percent of children from birth through age 14 and is the most common form of cancer in infants. Occasionally, it can spread to the brain.
If your child is diagnosed with retinoblastoma, you can expect to have a number of tests. The first test is a physical examination. You will see your pediatric ophthalmologist and have your child’s retina checked. If the doctor finds a tumor in your child’s eye, you will be referred to a specialist. This person will use special instruments to look at your child’s retina. A general anesthetic will be used to keep your child from moving.
Next, the doctor will do a blood test. This will tell your doctor if the tumor has spread to other parts of the body. You might have to have a bone marrow aspiration. This test will show if your child’s tumor has spread to the bone marrow. If it has, you will need to get chemotherapy or radiation treatments. These treatments are aimed at killing any remaining cancerous cells.
In the future, your child may have additional tests. Your ophthalmologist will order an ultrasound or magnetic resonance imaging. This will help you and your doctor determine whether the tumor has spread to other areas of your child’s body. The tests will also detect any abnormalities in the liver or kidneys.
You and your doctor will then decide if you need to do any additional testing. These tests can include a spinal tap. This is a procedure that allows your doctor to look at the fluid in your child’s spinal cord. This will detect any tumor cells that are in the fluid. You will also have to have a hearing test to ensure that your child isn’t having any problems with his or her hearing.
If the pediatric ophthalmologist suspects that your child has retinoblastoma, he or she will order a number of tests. These tests will help your doctor to confirm your child’s diagnosis.
Treatment
Various types of treatments are available for retinoblastoma. These include chemotherapy, cryotherapy, and radiation therapy. The choice of treatment is determined by the location of the tumor and its stage.
A malignant tumor of the retina forms when a gene mutation causes the eye cells to grow uncontrollably. It may also develop in the tissues surrounding the eye. In a few cases, this cancer is hereditary. In other cases, it is spontaneous. This condition is extremely rare. A large tumor may require the removal of the entire eyeball.
Chemotherapy is a type of treatment that uses drugs to kill cancer cells. These drugs are injected through a vein. The tumor is then heated to make the drug more effective. During treatment, the child is under general anesthesia. After the procedure, the child is released the same day.
In addition to chemotherapy, external beam radiotherapy is a treatment for retinoblastoma. EBRT involves the use of a metal shield to ensure that the radiation is directed at the tumor. This is then removed after the required dose of radiation is given. Radiation can have a detrimental effect on young children, so special precautions need to be taken.
Other treatments for retinoblastoma include laser thermotherapy, cryotherapy, and enucleation. Each of these treatments is used to destroy the tumor, but the treatment may vary depending on the size of the tumor. The goal of these therapies is to save the patient’s life.
For patients with germline mutations, genetic testing is essential. This will allow the healthcare provider to determine the status of the RB1 gene in the patient’s germline. These patients are at higher risk of developing secondary tumors, such as melanoma than non-germline patients. If the patient has a family history of retinoblastoma, it is important to undergo genetic counseling.
In some cases, the child will undergo additional tests to ensure that the tumor is not metastasizing. A bone marrow biopsy can reveal whether cancer has spread to bones. A spinal tap is often performed to detect the presence of cancer cells in the spinal fluid.
Health Sources:
Health A to Z. (n.d.). HSE.ie. https://www2.hse.ie/az/
U.S. National Library of Medicine. (n.d.). https://www.ncbi.nlm.nih.gov/
Directory Health Topics. (n.d.). https://www.healthline.com/directory/topics
Health A-Z. (2022, April 26). Verywell Health. https://www.verywellhealth.com/health-a-z-4014770
Harvard Health. (2015, November 17). Health A to Z. https://www.health.harvard.edu/health-a-to-z
Health Conditions A-Z Sitemap. (n.d.). EverydayHealth.com. https://www.everydayhealth.com/conditions/
