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Updated: May 29, 2026
Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
Published on: March 11, 2016
Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study
P-R Rothschild1, D Lévy, A Savignoni
1Department of Ocular Oncology, Institut Curie, Paris, France.
Insights
An intensive fundus screening schedule for children with retinoblastoma family history significantly reduced enucleation and radiation needs. Early detection through regular eye exams is crucial for better ocular outcomes in high-risk infants.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Genetics
Background:
- Retinoblastoma is a significant childhood eye cancer.
- Family history is a key risk factor for retinoblastoma.
- Early detection through fundus screening is critical for preserving vision and eyes.
Purpose of the Study:
- To evaluate the impact of an intensive fundus screening schedule on ocular outcomes in children with a history of retinoblastoma.
- To establish evidence-based guidelines for retinoblastoma fundus screening schedules in at-risk children.
Main Methods:
- Retrospective analysis of familial retinoblastoma cases (1995-2004).
- Classification of patients into 'non-screened' (NS), 'screened' (S), and 'intensively screened' (IS) groups.
- Statistical comparison of ocular outcomes (enucleation, EBRT, chemotherapy, visual acuity) between groups using Fisher exact and Kruskal-Wallis tests.
Main Results:
- Intensive screening (IS) group showed zero enucleations compared to 13 (NS) and 2 (S).
- External beam radiation therapy (EBRT) was required for 2 IS patients versus 6 (NS) and 0 (S).
- No significant differences in chemotherapy burden or visual acuity were observed between groups.
Conclusions:
- An intensive fundus screening schedule demonstrably reduces the necessity for enucleation and EBRT in familial retinoblastoma cases.
- Healthcare professionals should prioritize informing families about genetic risks and ensuring proper, specialized fundus screening for at-risk children.
- Despite the demanding nature of intensive screening, the benefits in ocular outcome preservation justify its recommendation.
Aims:
To 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.
Methods:
For 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.
Results:
Among 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.
Conclusion:
An '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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