Increasing Familial Retinoblastoma in High-Income Countries despite Stable Overall Incidence, 2017 to 2024

Abstract

PURPOSE: To reassess retinoblastoma (RB) incidence in high-income countries (HICs) participating in the Global Retinoblastoma Study and evaluate temporal changes in the proportion of familial RB between 2017 and 2024. DESIGN: Multicenter repeated cross-sectional study. SUBJECTS: Treatment-naïve children diagnosed with RB from 33 HICs who participated in both the 2017 and 2024 Global Retinoblastoma Study with complete or likely complete national case ascertainment (538 children in 2017; 434 in 2024). METHODS: Country-level RB incidence and familial RB proportions were compared between study years using Poisson generalized estimating equation models to account for paired observations within HICs. Country-specific live births were used as the offset for overall and sporadic RB incidence analyses, and total RB cases were used for the analysis of familial RB proportion. MAIN OUTCOME MEASURES: Overall and sporadic RB incidence rates in HICs, and the proportion of familial RB in 2017 versus 2024. RESULTS: In HICs, the overall RB incidence remained stable between 2017 and 2024 (1:15 408 vs. 1:16 399; P = 0.257), as did sporadic RB incidence (P = 0.101). In contrast, country-level paired analyses demonstrated a significant increase in the proportion of familial RB in HICs from 7.1% in 2017 to 10.4% in 2024 (P = 0.017), representing a 46.5% relative increase. CONCLUSIONS: In HICs, overall RB incidence remained stable over the 7-year period. However, the proportion of familial RB increased significantly, suggesting an evolving hereditary contribution to disease burden with implications for genetic counseling and surveillance strategies. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

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