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Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice

29 Aug 2025

Abstract excerpt

Retinoblastoma is a rare but malignant pediatric retinal tumor, affecting 1 in 15,000–20,000 live births annually. It arises from biallelic mutations in the RB1 tumor suppressor gene (chromosome 13q14.2), leading to uncontrolled cell cycle progression. Clinically, it presents as unilateral (60%) or bilateral (40%) disease, with leukocoria and strabismus as hallmark signs. Untreated, retinoblastoma is fatal due to...

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PMID: 41009976
DOI: 10.3390/genes16091031

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