Abstract

Retinoblastoma is the most common primary intraocular malignancy in children, arising from mutations in the RB1 gene that lead to uncontrolled retinal cell proliferation. Early diagnosis and effective management are crucial for preserving vision and improving survival rates. This article provides a comprehensive overview of the clinical presentation, diagnostic techniques, and treatment modalities for retinoblastoma. Diagnostic approaches include clinical examination, imaging methods such as ultrasound, MRI, and fundoscopy, as well as genetic testing to identify heritable cases. The management of retinoblastoma has evolved significantly, with options ranging from enucleation and external beam radiotherapy to focal therapies such as laser photocoagulation, cryotherapy, and chemotherapy—including systemic, intra-arterial, and intravitreal administration. The paper discusses the indications, efficacy, and side effects of these treatments, emphasizing a multidisciplinary approach tailored to tumor stage and patient condition. Advances in targeted therapies and eye-preserving strategies have improved outcomes, but challenges remain in early detection and treatment accessibility. This review aims to assist clinicians and researchers in understanding current best practices and emerging trends in retinoblastoma diagnosis and management, ultimately contributing to improved patient care.