Summary about Disease
Retinoblastoma is a rare cancer that develops in the retina, the light-sensitive tissue at the back of the eye. It primarily affects young children, but can rarely occur in adults. It can be unilateral (affecting one eye) or bilateral (affecting both eyes). Early detection and treatment are crucial for survival and preserving vision.
Symptoms
Common symptoms of retinoblastoma include:
Leukocoria: A white glow in the pupil when light shines on it (often the first noticeable sign, especially in photographs).
Strabismus: Misalignment of the eyes (crossed eyes or lazy eye).
Decreased vision: Difficulty seeing or noticeable vision loss.
Redness or pain in the eye: Inflammation or discomfort.
Pupil that doesn't shrink when exposed to light: Abnormal pupil response.
Causes
Retinoblastoma is caused by mutations in the RB1 gene, which plays a crucial role in regulating cell growth. These mutations can be:
Hereditary: Inherited from a parent who carries the mutated gene. In these cases, retinoblastoma is often bilateral.
Non-hereditary (sporadic): The mutation occurs spontaneously in a single cell in the retina during development. Sporadic cases are usually unilateral.
Medicine Used
Treatment for retinoblastoma depends on the stage and extent of the disease, and whether it is unilateral or bilateral. Chemotherapy drugs are used systemically and directly injected into the eye. Common chemotherapy drugs used include:
Carboplatin
Etoposide
Vincristine
Cyclophosphamide
Topotecan Other medicines used include:
Melphalan (used in chemoreduction and intra-arterial chemotherapy)
Topotecan (used in chemoreduction and intra-arterial chemotherapy) This is not a complete list, and the specific drugs used will vary based on the patient and treatment plan.
Is Communicable
Retinoblastoma is not communicable. It is not caused by an infectious agent and cannot be spread from person to person. It is a genetic disease.
Precautions
Since retinoblastoma is primarily a genetic disease, there are limited precautions that can be taken to prevent it. However, genetic counseling is crucial for families with a history of retinoblastoma to assess the risk of passing the mutated gene to future children. Early detection through regular eye exams in young children is also vital.
How long does an outbreak last?
Retinoblastoma is not an infectious disease and does not occur in outbreaks. It is a type of cancer that develops in individuals, not a contagious condition that spreads through populations.
How is it diagnosed?
Diagnosis of retinoblastoma typically involves:
Eye exam: A thorough examination of the eye, often under anesthesia, to visualize the retina.
Ophthalmoscopy: Using an ophthalmoscope to examine the back of the eye.
Imaging studies: MRI or CT scans to determine the extent of the tumor and if it has spread outside the eye.
Ultrasound: Using sound waves to create images of the eye.
Genetic testing: To identify mutations in the RB1 gene.
Timeline of Symptoms
The timeline of symptoms can vary, but generally:
Early stages: Leukocoria may be the first sign noticed, often in infancy or early childhood.
Progression: Strabismus, vision problems, and eye redness/pain may develop as the tumor grows.
Advanced stages: In severe cases, the tumor can spread outside the eye, leading to more systemic symptoms. The timeframe can vary from months to a few years, depending on the tumor's growth rate and the age of the child.
Important Considerations
Early detection is critical: The earlier retinoblastoma is diagnosed, the better the chances of successful treatment and preserving vision.
Genetic counseling: Families with a history of retinoblastoma should seek genetic counseling to understand the risk of recurrence.
Multidisciplinary care: Treatment requires a team of specialists, including ophthalmologists, oncologists, and geneticists.
Vision preservation: While saving the child's life is the primary goal, preserving vision is also a key consideration.
Long-term follow-up: Patients require long-term follow-up to monitor for recurrence and potential side effects of treatment.