[Retinoblastoma update].

Area of Science:

• Ophthalmology
• Pediatric Oncology
• Genetics

Background:

• Retinoblastoma is the most common intraocular malignancy in infants, affecting 1 in 15,000 births.
• It presents unilaterally (60%) or bilaterally (40%), with bilateral cases often hereditary and linked to RB1 gene mutations.
• Key symptoms include leukocoria and strabismus, necessitating early diagnosis through fundoscopy, ultrasound, and MRI.

Purpose of the Study:

• To review the diagnosis, treatment, and prognosis of retinoblastoma.
• To highlight the importance of early detection and multidisciplinary care.
• To discuss recent advances in conservative treatment strategies for vision preservation.

Main Methods:

• Review of retinoblastoma diagnosis using fundoscopy, ultrasound, and MRI.
• Analysis of treatment strategies including enucleation, adjuvant therapy, and conservative approaches (laser, chemotherapy, cryotherapy, brachytherapy).
• Discussion of hereditary aspects, RB1 gene mutations, and long-term follow-up including secondary tumor risks.

Main Results:

• Early detection and specialized multidisciplinary care are crucial for prognosis.
• Conservative treatments, including selective intra-arterial chemotherapy and intravitreal injections, are increasingly used, especially in bilateral cases.
• While vital prognosis is excellent in developed countries, long-term survival is impacted by secondary tumors like sarcoma.

Conclusions:

• Retinoblastoma management requires a tailored approach considering disease extent, visual risk, and hereditary factors.
• Advances in conservative therapies aim to minimize enucleations and radiotherapy, preserving visual function.
• Long-term, specialized follow-up and genetic counseling are essential for patients and families due to hereditary risks and secondary tumor development.