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Likelihood of germline mutation with solitary retinoblastoma based on tumour location at presentation
  1. Philip W Dockery,
  2. Megan Ruben,
  3. Emily R Duffner,
  4. Hannah J Levin,
  5. Sara E Lally,
  6. Jerry A Shields,
  7. Carol L Shields
  1. Wills Eye Hospital Ocular Oncology Service, Philadelphia, Pennsylvania, USA
  1. Correspondence to Dr Carol L Shields, Oncology Service, Wills Eye Hospital, Philadelphia, Pennsylvania, USA; carolshields{at}


Background/aims To evaluate the likelihood of germline mutation in patients presenting with solitary retinoblastoma based on tumour location at first examination.

Methods Retrospective analysis of solitary unilateral retinoblastoma for likelihood of germline mutation (family history of retinoblastoma and/or genetic testing indicating germline RB1 mutation and/or development of additional new or bilateral tumours) based on tumur location at presentation (macular vs extramacular).

Results Of 480 consecutive patients with solitary retinoblastoma, 85 were in the macula (18%) and 395 were extramacular (82%). By comparison (macular vs extramacular tumours), macular tumours had smaller basal diameter (12.7 mm vs 18.9 mm, p<0.001) and smaller tumour thickness (6.1 mm vs 10.7 mm, p<0.001). Patients with macular tumours demonstrated greater likelihood for germline mutation (23% vs 12%, OR=2.18, p=0.011), specifically based on family history of retinoblastoma (13% vs 2%, OR=4.64, p=0.004), genetic testing showing germline RB1 mutation (27% vs 15%, OR=2.04 (95% CI 1.04 to 4.01), p=0.039), development of new tumours (13% vs 3%, OR=5.16 (95% CI 2.06 to 12.87), p=0.001) and/or development of bilateral disease (9% vs 2%, OR=4.98 (95% CI 1.70 to 14.65), p=0.004).

Conclusions Among patients with solitary unilateral retinoblastoma, those presenting with macular tumour (compared with extramacular tumour) show 2.18 times greater likelihood for germline mutation and an even higher likelihood of development of subsequent tumours. Solitary macular retinoblastoma should raise an index of suspicion for likely germline mutation and multifocal disease.

  • Retina
  • Genetics
  • Macula
  • Neoplasia

Data availability statement

Data are available on reasonable request.

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Data availability statement

Data are available on reasonable request.

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  • Contributors All author have contributed to critical parts of the creation and approval of this submitted manuscript. CLS is the guarantor.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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