Neonatal Retinoblastoma

Clin Perinatol. 2021 Mar;48(1):53-70. doi: 10.1016/j.clp.2020.12.001.


Retinoblastoma is the most common ocular malignancy of childhood. With an estimated 300 cases annually in the United States, retinoblastoma is nevertheless considered a rare tumor. Although retinoblastoma primarily affects younger children, diagnosis during the neonatal age range is less common. However, an understanding of patients at risk is critical for appropriate screening. Early detection and treatment by a multidisciplinary specialty team maximizes the chance for survival and ocular/vision salvage while minimizing treatment-related toxicity. Testing for alterations in the RB1 gene has become standard practice, and informs screening and genetic counseling recommendations for patients and their families.

Keywords: Leukocoria; Neonatal retinoblastoma; RB1; Retinoblastoma.

Publication types

  • Review

MeSH terms

  • Child
  • Early Diagnosis
  • Genetic Counseling
  • Humans
  • Infant, Newborn
  • Mass Screening
  • Retinal Neoplasms* / diagnosis
  • Retinal Neoplasms* / epidemiology
  • Retinal Neoplasms* / genetics
  • Retinoblastoma* / diagnosis
  • Retinoblastoma* / epidemiology
  • Retinoblastoma* / genetics