Retinoblastoma in Children
What is Pediatric Retinoblastoma?
Retinoblastoma is a rarely occurring eye cancer, fierce in nature, which affects primarily newly-born babies, less than five years of age, developing in the retina, the light-sensitive tissue located at the rear/back of the eye playing a crucial role in better eyesight or visual activities. Notwithstanding being rare, critical retinoblastoma eye condition is considered one of the most typical eye cancers emerging in children, which can be diagnosed, managed, and treated only with the timely intervention of eye specialists, who can protect the children from more complications.
Causes of Retinoblastoma
Occurring, in normal cases, due to genetic mutations in the cells of the retina, the Retinoblastoma damages sections of normal cells, deforming them into tumors that can be categorized into two types of eye conditions as follows:-
Hereditary Retinoblastoma
- Such type of Retinoblastoma eye condition occurs due to mutations/conversions in the RB1 genes, or inherited from a parent/s growing spontaneously during fetal development as tumors in both eyes, a condition known as bilateral Retinoblastoma.
Non-Hereditary Retinoblastoma
- Non-hereditary Retinoblastoma in several cases, affects only one eye (aka unilateral retinoblastoma) and is not supposed to be the outcome of a family history of eye diseases/disorders.
Symptoms of Retinoblastoma
The signs of retinoblastoma usually differ or vary in the following forms:-
- Leukocoria, which is a white reflective effect on the pupil, visible in pictures or particular lighting conditions.
- Strabismus is a misaligned condition of the eyes that reveals the possibility of a tumor.
- Vision Problems in children are the precursor or signs of poor vision or difficulty focusing.
- Eye redness and swelling, persisting without apparent cause.
- Glaucoma symptoms, characterized by increased pressure within the eye also cause pain and discomfort in affected children.
Diagnosis
Early detection is vital for effective treatment. Diagnostic methods include:-
Comprehensive Eye Examination
- A pediatric ophthalmologist examines the eye for signs of tumors or abnormalities.
Imaging Tests
- Ultrasound, MRI, or CT scans are used to determine the size, location, and spread of the tumor.
Genetic Testing
- In hereditary cases, genetic analysis helps identify mutations in the RB1 gene, which can also guide screening for other family members.
Bone Marrow and Spinal Fluid Analysis
- These tests may be conducted if there is suspicion of cancer spreading beyond the eye.
Treatment Options
The treatment plan for retinoblastoma depends on factors such as the size and location of the tumor, whether one or both eyes are affected, and the stage of the disease. Common treatment approaches include:-
Laser Therapy (Photocoagulation)
- Lasers are used to destroy small tumors by cutting off their blood supply.
Cryotherapy
- Freezing techniques are used to eliminate small tumors in the retina.
Chemotherapy
- Systemic or localized chemotherapy is used to shrink larger tumors, often in combination with other treatments.
Radiation Therapy
- External beam radiation or brachytherapy (internal radiation) may be used for advanced cases.
Enucleation
- In severe cases where the eye cannot be saved, surgical removal of the affected eye prevents the cancer from spreading.
Prognosis and Follow-Up
With early diagnosis and appropriate treatment, the survival rate for retinoblastoma is very high, especially in developed countries. Children with hereditary retinoblastoma require lifelong monitoring, as they are at increased risk for developing other cancers later in life.
Prevention and Awareness
While non-hereditary retinoblastoma cannot be prevented, genetic counseling and regular eye examinations are crucial for families with a history of the disease. Early recognition of symptoms like Leukocoria and strabismus is key to ensuring timely intervention.
Conclusion
Retinoblastoma, though life-threatening, is highly treatable when detected early. Awareness among parents, caregivers, and healthcare providers is essential to recognize warning signs and seek prompt medical attention. Advances in treatment and genetic research continue to improve outcomes, offering hope for children affected by this condition.
