At What Age Could Screening for Familial Retinoblastoma Be Discontinued? A Systematic Review

SIMPLE SUMMARY: Offspring of patients with heritable retinoblastoma have a high risk of developing retinoblastoma themselves. Ophthalmological screening from birth in at-risk children ensures early detection and increases survival. As not every at-risk child develops retinoblastoma it should be determined until what age familial retinoblastoma can occur, so that ophthalmological screening could safely be stopped at that age. Extended screening beyond this age would result in unnecessary patient burden and costs. By systematically searching the medical literature for latest age at diagnosis in this population, we ascertained that among adequately screened patients the oldest age at diagnosis is 48 months. Therefore, screening for familial retinoblastoma can safely be stopped at four years of age. ABSTRACT: The aim of this systematic review is to assess the latest age at diagnosis for detection of familial retinoblastoma in order to evaluate at what age screening of at-risk children could be discontinued. Extended screening beyond this age would result in unnecessary patient burden and costs. However, discontinuing screening prematurely would have the adverse effect of missing tumors. We performed a literature search (PubMed, Embase, CINAHL and the Cochrane Library) up until February of 2021 and systematically included studies where patients had a family history of retinoblastoma, a known age at diagnosis, and who were ophthalmologically screened for retinoblastoma from birth. A total of 176 familial retinoblastoma patients from 17 studies were included in this review. Based on 48 months of age being the latest age of diagnosis, ophthalmological screening for familial retinoblastoma could safely be discontinued at age four years.