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Age distribution of retinoblastoma tumours in familial disease

Eye volume 39, pages 1093–1098 (2025)Cite this article

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Abstract

Background

40% of children with retinoblastoma have an RB1 gene mutation identified, known as heritable retinoblastoma. It is important to undertake active surveillance (screening) of relatives of those with identified RB1 gene mutations and ensure ongoing surveillance to monitor for new tumour formation or recurrences. Current guidance is to screen patients up to the age of 7 years old. With advancements in treatment methods and survival rates of retinoblastoma being 98%, it has become increasingly important to plan a surveillance programme that is both safe and cost effective. van Hoefen Wijsard et al. proposed that surveillance could be concluded at the age of 4 years.

Method

We conducted a retrospective analysis of all patients with familial retinoblastoma known to our service presenting from 1995 to 2020. 52 patients were eligible for analysis. 47 out of 50 had more than 4 years of follow up (median 129 months).

Results

In this cohort, the oldest age for new tumour occurrence was 47 months; if patients were screened from an appropriate age according to protocol, the latest age for new tumour occurrence was 28 months. Furthermore, the average age for tumour recurrence was 15 months; the oldest patient with an identified tumour recurrence was 56 months old.

Conclusion

This supports the notion that it may be safe to reduce the length of surveillance for new tumours in familial retinoblastoma from 7 years of age.

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Fig. 1: Graphic showing age distribution of tumour occurrence.
Fig. 2

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Data availability

The authors confirm that the data supporting the findings of this study are available within the article [and/or] its supplementary materials.

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Acknowledgements

Mr Sam Gurney, Dr Amy Gerrish, Dr Helen Jenkinson, Dr Gerard Millen, Dr Monisha Shanmugasundaram, Maria Kirk, Sarah-Jane Staveley, Anu Kumar, Sister Maureen McCalla.

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Author notes

  1. These authors contributed equally: Jessica Katie Walker, Devika Nair.

Authors and Affiliations

  1. Birmingham Children’s Hospital, Birmingham, UK

    Jessica Katie Walker, Devika Nair, Ann-Marie Mongan, Manoj Parulekar, Trevor Cole & Joseph Abbott

  2. Ophthalmology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK

    Manoj Parulekar

Authors
  1. Jessica Katie Walker
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  2. Devika Nair
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  3. Ann-Marie Mongan
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  4. Manoj Parulekar
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  5. Trevor Cole
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  6. Joseph Abbott
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Contributions

Dr Walker, Dr Nair, Dr Mongan collected and analysed data then drafted the paper. Mr Parulekar conceived the idea, edited the paper and Drs Cole and Abbott shared the roles of idea conception, research supervisors, paper editors. All contributed to entitle their place as authors.

Corresponding author

Correspondence to Joseph Abbott.

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Walker, J.K., Nair, D., Mongan, AM. et al. Age distribution of retinoblastoma tumours in familial disease. Eye 39, 1093–1098 (2025). https://doi.org/10.1038/s41433-024-03499-y

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