About Retinoblastoma
Retinoblastoma is a cancer of the retina that can be caused by both hereditary genetic defects and congenital mutations in chromosome 13.
Non-modifiable risk factors are factors that cannot be changed or controlled. Non-modifiable risk factors for retinoblastoma include:
- Age: Retinoblastoma is more common in infants and very young children than in older children.
- Genetics: Hereditary genetic defects play a role in the development of retinoblastoma.
Modifiable risk factors are factors that can be influenced or changed. Modifiable risk factors for retinoblastoma are not well-documented. However, it is important to note that retinoblastoma is a rare cancer, and most cases occur sporadically without any identifiable risk factors.
It is crucial to focus on early detection and prompt treatment to improve outcomes. Regular eye exams and awareness of symptoms can help with early diagnosis. If you have concerns about retinoblastoma or any eye-related issues, it is recommended to consult with a healthcare professional for further evaluation.
The most common early symptoms of retinoblastoma include:
- Leukocoria: This is when the pupil appears white instead of red or pink when light shines into it. It is often noticed by parents and can be confirmed with a red reflex test.
- Strabismus: Also known as crossed eyes, where one eye turns in or out.
Other common symptoms that may occur with later stages, progression, or higher severity of retinoblastoma include:
- Forward displacement of the eye (proptosis)
- A visible tumor (fungating mass) involving the eye, orbit, and/or face
- Poor vision
- Nystagmus (constant eye movements)
- Hyphema (bleeding into the anterior chamber of the eye)
- Pseudohypopyon (layered white material in the anterior chamber)
- Periocular inflammation
- Phthisis bulbi (shrinkage of the eyeball)
- Raised pressure in the eye (glaucoma)
- Enlargement of the eyeball
- Change in iris color (heterochromia)
It's important to note that early detection and treatment are crucial for better outcomes. If you notice any of these symptoms or have concerns, it's best to consult with a healthcare professional.
Often, possible retinoblastoma in young children is noticed by a healthcare provider during a routine check-up. A referral is usually made to an ophthalmologist (eye specialist) who may perform the following examinations, tests, and procedures:
- Physical exam and health history: The doctor will examine the body for any signs of disease and inquire about the patient's health habits, past illnesses, and treatments. They may also ask about a family history of retinoblastoma.
- Eye exam with dilated pupil: This involves using medicated eye drops to widen the pupil and allow the doctor to examine the inside of the eye, including the retina and optic nerve. In young children, this exam may be done under anesthesia.
- Ophthalmoscopy: This exam uses a small magnifying lens and light to check the retina and optic nerve.
- Fluorescein angiography: A procedure to examine blood vessels and blood flow inside the eye.
- Imaging studies may be needed to look for tumors in places that are difficult to see during the dilated pupil eye exam. Imaging studies may include:
- Ultrasound
- Computed tomography (CT) scan
- Magnetic resonance imaging (MRI) scan: This procedure uses a magnet, radio waves, and a computer to create detailed pictures of areas inside the body. In addition to the eye, this may be used to see if the tumor has spread to other parts of the body such as the brain.
- Positron emission tomography (PET) scan: This scan may be used to see if cancer has spread to other areas of the body.
It's important to consult with your healthcare professional for personalized advice on which examinations, tests, and procedures are suitable for your individual situation.
The goals of treatment for retinoblastoma are:
- Cure the cancer: Treatment aims to eliminate the retinoblastoma tumor, achieve long-term remission, and prevent the cancer from spreading to other parts of the body, which can be life-threatening.
- Save the eye, if possible: Preservation of the affected eye is a secondary goal, especially in cases where vision can be maintained.
- Preserve as much vision as possible: Retinoblastoma treatment strives to maintain or improve visual function in the affected eye(s) whenever feasible.
To achieve these goals, various treatment options may be recommended:
- Chemotherapy: Chemotherapy is used to kill cancer calls and reduce tumor size. Shrinking the tumor can help facilitate local treatment measures like cryotherapy or laser therapy. Chemotherapy can also be used as an adjuvant therapy to decrease the risk of metastasis following enucleation (removal of the eye) in high-risk patients.
- Cryotherapy: Cold treatment is used to destroy retinoblastoma cells by freezing them.
- Laser therapy: A focused laser beam is used to target and destroy retinoblastoma cells.
- Radiation therapy: External beam radiation therapy may be used in certain cases to treat intraocular or extraocular disease progression.
- Enucleation: Surgical removal of the affected eye may be necessary if other treatments are not effective or if there is a risk of extraocular spread.
- Self-care and Health behavior changes may include regular follow-up appointments, adherence to medication schedules, and lifestyle modifications as advised by healthcare professionals. Other therapies and treatments may be prescribed to help with side effects of other treatments.
It's important to note that treatment plans are individualized based on factors such as tumor size, location, stage, metastasis, age, and overall health. The specific recommendations for each person will depend on their unique situation. Always consult with a healthcare professional for personalized advice.
Medication dosing may be affected by many factors. Check with your health care professional about dosing for your individual situation. Side effects can occur. Check with your health care professional or read the information provided with your medication for additional side effect information.