Challenges for Early Diagnosis in Retinoblastoma in Low- and Middle-Income Countries.

Guillermo L Chantada, David H Abramson, Gabriela Villanueva

Journal: Pediatric blood & cancer 2025;72(9):e31859

PMID: 40619694

Abstract

Retinoblastoma mortality remains high in many low- and middle-income countries (LMICs), primarily due to delayed diagnosis and treatment. While efforts have been made to implement systematic population-level screening, its feasibility remains limited, except in patients with a germline RB1 mutation or a family history of retinoblastoma. Screening for retinoblastoma faces significant challenges, including the lack of a reliable, widely available test with high sensitivity and specificity. Smartphone applications and red-reflex eye testing have shown potential for detecting leukocoria, but their utility in real-world settings remains uncertain. To improve outcomes in LMICs, early diagnosis actions are strongly recommended. This requires not only timely detection but also ensuring that patients reach centers of excellence promptly and are efficiently referred and diagnosed, while minimizing treatment abandonment. Strengthening early diagnosis efforts through public awareness campaigns, educating primary care providers, and streamlining referral pathways is essential. These initiatives are expected to improve disease-free survival, reduce the proportion of cases diagnosed at the extraocular stage, and enable diagnosis at a younger age. Prioritizing robust early diagnosis by reinforcing the healthcare system, ensuring universal access to specialized retinoblastoma centers, and implementing abandonment reduction programs is likely to be more effective than universal screening.

© 2025 Wiley Periodicals LLC.

Address: Pediatric Cancer Center Barcelona, Hospital Sant Joan de Déu, Barcelona, Spain.; Fundación Pérez-Scremini, Montevideo, Uruguay.; Hospital de Clínicas José de San Martín, Buenos Aires, Argentina.; Memorial Sloan Kettering Cancer Center, New York, New York, USA.

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