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Updated: Feb 26, 2026
Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
Neonatal Retinoblastoma
Tero T Kivelä1, Theodora Hadjistilianou2
1Department of Ophthalmology, Ocular Oncology and Pediatric Ophthalmology Services, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Insights
Neonatal retinoblastoma, often hereditary due to RB1 gene mutations, presents challenges in diagnosis and treatment. Early detection and genetic counseling are crucial for managing this rare childhood cancer.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Genetics
Background:
- Neonatal retinoblastoma occurs in 7-10% of all cases, and up to 71% of familial cases in developed countries.
- It typically arises from a germline mutation in the RB1 gene, often hereditary even without a family history.
- Diagnosis in developing countries is less common, with varying tumor classifications at presentation.
Purpose of the Study:
- To review the characteristics, diagnosis, and management of neonatal retinoblastoma.
- To highlight the importance of early detection, genetic counseling, and supportive care for affected families.
Main Methods:
- Literature review and analysis of existing data on neonatal retinoblastoma.
- Discussion of diagnostic criteria, tumor classification, and treatment challenges.
- Emphasis on the role of oncology nurses in patient and family support.
Main Results:
- Most neonatal retinoblastoma cases are hereditary, often presenting unilaterally but with a high risk of bilateral involvement.
- Tumors are frequently near the foveola, but reading vision loss is exceptional due to macular sparing.
- Trilateral retinoblastoma incidence is not increased in neonatal cases.
Conclusions:
- Neonatal retinoblastoma requires specialized management due to potential for bilateral disease and vision loss.
- Genetic counseling and early screening for at-risk families are essential.
- Multidisciplinary care, including psychological support, improves outcomes for affected children and families.
Abstract:
From 7% to 10% of all retinoblastomas and from 44% to 71% of familial retinoblastomas in developed countries are diagnosed in the neonatal period, usually through pre- or post-natal screening prompted by a positive family history and sometimes serendipitously during screening for retinopathy of prematurity or other reasons. In developing countries, neonatal diagnosis of retinoblastoma has been less common. Neonatal retinoblastoma generally develops from a germline mutation of RB1, the retinoblastoma gene, even when the family history is negative and is thus usually hereditary. At least one-half of infants with neonatal retinoblastoma have unilateral tumors when the diagnosis is made, typically the International Intraocular Retinoblastoma Classification (Murphree) Group B or higher, but most germline mutation carriers will progress to bilateral involvement, typically Group A in the fellow eye. Neonatal leukokoria usually leads to the diagnosis in children without a family history of retinoblastoma, and a Group C tumor or higher is typical in the more advanced involved eye. Almost all infants with neonatal retinoblastoma have at least one eye with a tumor in proximity to the foveola, but the macula of the fellow eye is frequently spared. Consequently, loss of reading vision from both eyes is exceptional. A primary ectopic intracranial neuroblastic tumor known as trilateral retinoblastoma is no more common after neonatal than other retinoblastoma. For many reasons, neonatal retinoblastoma may be a challenge to eradicate, and the early age at diagnosis and relatively small tumors do not guarantee the preservation of both eyes of every involved child. Oncology nurses can be instrumental in contributing to better outcomes by ensuring that hereditary retinoblastoma survivors receive genetic counseling, by referring families of survivors to early screening programs when they are planning for a baby, and by providing psychological and practical support for parents when neonatal retinoblastoma has been diagnosed.
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