Pediatric Oncology and Cancer Care

Retinoblastoma Eye Cancer Disease

Retinoblastoma eye cancer disease is a rare but aggressive malignant tumor of the retina that primarily affects young children, usually under the age of five. It arises from the retinal cells responsible for detecting light and is often caused by mutations in the RB1 gene, a tumor suppressor gene that, when defective, leads to uncontrolled cellular proliferation. Retinoblastoma can occur in one eye or both eyes and may be inherited in a familial form or arise spontaneously. The most common presenting sign is leukocoria, or a white reflex in the pupil, often noticed by parents in photographs, followed by symptoms such as strabismus, poor vision, redness, or swelling of the eye. Early detection is vital, as untreated tumors can invade surrounding tissues, including the optic nerve and brain, and may metastasize to distant organs. Diagnosis is typically made through clinical examination by an ophthalmologist, supported by imaging studies like ultrasound, magnetic resonance imaging, and sometimes computed tomography to assess the extent of the tumor. Genetic testing is also essential for determining hereditary risk and guiding family screening. Treatment strategies depend on the size, location, and extent of the tumor and include focal therapies such as laser photocoagulation, cryotherapy, and thermotherapy for small tumors, while more advanced cases may require systemic chemotherapy, intra-arterial chemotherapy, or enucleation—the surgical removal of the eye—to prevent life-threatening spread. Preservation of vision and life are the two primary goals in management. Advances in intra-arterial and intravitreal chemotherapy have significantly improved outcomes by delivering targeted drugs directly to the tumor site, reducing systemic toxicity and preserving the eye in many cases. The survival rate for retinoblastoma is over 90 percent in high-income countries due to early diagnosis and multidisciplinary treatment; however, in many low-resource settings, delayed presentation and limited access to care result in poor outcomes and increased mortality. Long-term follow-up is necessary to monitor for tumor recurrence, secondary malignancies, especially in hereditary cases, and psychosocial impacts on the child and family. Retinoblastoma serves as a model for the importance of integrating genetics into cancer care, and ongoing research aims to identify novel molecular targets and develop less invasive treatments. Awareness campaigns, newborn screening, and improved access to ophthalmic and oncologic services are essential to improve early diagnosis and survival rates worldwide. Collaborative efforts between pediatric oncologists, ophthalmologists, genetic counselors, nurses, and psychosocial teams are crucial in delivering holistic care to children with retinoblastoma eye cancer disease and ensuring a future with optimal health, vision, and quality of life.