ArticleEye (London, England)2011
Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study.
Article in Eye (London, England), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Comparison between intravenous chemotherapy and intra-arterial chemotherapy for retinoblastoma: a meta-analysis.BMC cancer · 2018Pooled it
- Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Neoplastic Diseases.Acta medica Philippina · 2026Article
- Case Report: A novel germline donor splicing site mutation ofFrontiers in oncology · 2025Article
- Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam.Familial cancer · 2024Article
- At What Age Could Screening for Familial Retinoblastoma Be Discontinued? A Systematic Review.Cancers · 2021Article
- Epidemiological trends in 1452 cases of retinoblastoma from the Surveillance, Epidemiology, and End Results (SEER) registry.Canadian journal of ophthalmology. Journal canadien d'ophtalmologie · 2017Article
- Retinoblastoma and Neuroblastoma Predisposition and Surveillance.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Review
- Management of familial cancer: sequencing, surveillance and society.Nature reviews. Clinical oncology · 2014Review
- Preserving vision in retinoblastoma through early detection and intervention.Current oncology reports · 2012Article
- Retinoblastoma: Making a Difference Together.Asia-Pacific journal of oncology nursingArticle
- Knudson to embryo selection: A story of the genetics of retinoblastoma.Taiwan journal of ophthalmologyReview
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo assess if systematic fundus screening according to an 'intensive' schedule alters ocular outcome and to propose fundus screening schedule guidelines for children related to a retinoblastoma patient.
methodsFor children with a positive family history of retinoblastoma, we perform fundus exams shortly after birth under general anaesthesia and then at regular intervals according to schedules based on the risk. Familial retinoblastoma cases seen at our institution from January 1995 to December 2004 were retrospectively classified as 'screened' or 'non-screened' (NS) and, among the 'screened' patients, as 'intensively screened' (IS) if screening matched our recommendations or 'non-intensively screened' (S). Groups were compared by Fisher exact test for categorical variables and Kruskal-Wallis test for continuous variables.
resultsAmong the 547 retinoblastoma patients managed at our institution during this period, 59 were familial cases. In all, 20 were in the NS group, 23 in the S group, and 16 in the IS group. The number of children enucleated was, respectively, 13, 2, and 0 (P<10(-4)); external beam radiation (EBRT) was required for, respectively, 6, 0, and 2 children (P<0.009). Chemotherapy burden and visual acuity were not significantly different between groups.
conclusionAn 'intensive' fundus screening schedule decreased the need for enucleation and EBRT. Therefore, despite the heavy burden of the screening schedule, we recommend physicians and health-care professionals to better inform and refer children with a family history of retinoblastoma for genetic counselling and proper fundus screening in specialized centres.
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