Retinoblastoma

Retinoblastoma is the most common primary intraocular malignancy of childhood, arising from the developing retinal cells and typically presenting before 5 years of age. The disease is caused by biallelic inactivation of the RB1 tumor suppressor gene, occurring either sporadically or through hereditary transmission. Clinically, retinoblastoma most often presents with leukocoria, strabismus, or visual impairment, and early detection is critical for survival and ocular preservation. Based on laterality and genetic background, retinoblastoma is classified as unilateral or bilateral, with hereditary forms carrying an increased risk of trilateral retinoblastoma and secondary malignancies. Advances in diagnostic imaging, including indirect ophthalmoscopy, ultrasonography, magnetic resonance imaging, and optical coherence tomography, have improved tumor characterization and staging while minimizing invasive procedures. Management strategies have evolved significantly over recent decades, shifting from enucleation and external beam radiotherapy toward globe- and vision-sparing treatments. Current therapeutic approaches include systemic chemotherapy, intra-arterial chemotherapy, intravitreal chemotherapy, focal laser therapy, cryotherapy, and plaque brachytherapy, tailored according to disease stage and tumor location. With modern multidisciplinary care, survival rates in developed countries now exceed 95%, although challenges remain in low-resource settings where delayed diagnosis contributes to higher mortality. Long-term follow-up is essential to monitor for tumor recurrence, treatment-related complications, and secondary cancers, particularly in patients with hereditary disease. Ongoing research into molecular genetics, targeted therapies, and early screening strategies continues to improve outcomes and quality of life for children affected by retinoblastoma.