Introduction: Retinoblastoma is a rare but potentially life-threatening childhood eye cancer arising from immature retinal cells. This article provides a comprehensive overview of retinoblastoma, encompassing its epidemiology, etiology, clinical manifestations, diagnostic approaches, treatment modalities, and recent advancements in research and therapy.

Epidemiology: Retinoblastoma accounts for approximately 3% of all childhood cancers, with an estimated incidence of 1 in 15,000 to 20,000 live births globally. While retinoblastoma can occur sporadically, approximately 40% of cases have an inherited genetic predisposition, often associated with a mutation in the RB1 gene.

Etiology: The majority of retinoblastoma cases are caused by mutations in the RB1 tumor suppressor gene, leading to uncontrolled proliferation of retinal cells. Inherited retinoblastoma typically follows an autosomal dominant pattern, while sporadic cases arise from somatic mutations. Additional risk factors may include prematurity, parental age, and exposure to radiation.

Clinical Manifestations: Clinical features of retinoblastoma include:

• Leukocoria (white pupil), often the earliest and most common presenting sign
• Strabismus (misaligned eyes) or anisometropia (unequal refractive errors)
• Decreased vision or visual field defects
• Eye redness, pain, or swelling in advanced cases
• Buphthalmos (enlarged eyeball) or orbital cellulitis in cases of extraocular extension

Diagnostic Approaches: Diagnosing retinoblastoma requires a multidisciplinary approach, including:

• Ophthalmic examination with indirect ophthalmoscopy and slit-lamp biomicroscopy
• Imaging studies such as ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI) to evaluate tumor size, location, and extent of invasion
• Genetic testing to identify RB1 gene mutations and assess familial risk

Treatment Modalities: Treatment options for retinoblastoma depend on factors such as tumor size, location, and extent of intraocular involvement. Therapeutic modalities may include:

• Focal therapies such as laser photocoagulation, cryotherapy, or thermotherapy for small intraocular tumors
• Chemotherapy, either systemic or intra-arterial, to shrink tumors and prevent metastasis
• External beam radiation therapy (EBRT) or brachytherapy for larger or more advanced tumors
• Enucleation (surgical removal of the eye) in cases of extensive intraocular disease or refractory tumors

Recent Advancements: Recent advancements in retinoblastoma research and therapy include:

• Targeted therapies and immunotherapies aiming to selectively target cancer cells while sparing healthy tissue
• Ocular drug delivery systems facilitating localized drug delivery and reducing systemic side effects
• Genetic counseling and screening programs to identify at-risk individuals and provide early intervention

Reference Sites:

1. American Association for Pediatric Ophthalmology and Strabismus (AAPOS) – https://aapos.org/
2. International Society of Ocular Oncology (ISOO) – https://www.isoo.org/
3. World Eye Cancer Hope – https://wechope.org/
4. St. Jude Children’s Research Hospital – https://www.stjude.org/

By raising awareness of retinoblastoma and highlighting recent advancements in diagnosis and treatment, this article aims to empower healthcare professionals in their efforts to effectively manage and treat this challenging pediatric malignancy. With continued research and collaborative efforts, the prognosis for children with retinoblastoma continues to improve, offering hope for a brighter future.