ReviewBMC pediatrics2025
Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC.
Review in BMC pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Von Hippel-Lindau Syndrome: An Updated Narrative Review for the First-Contact Clinician.Cureus · 2026Review
- Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.BMC pediatrics · 2026Observational
- Advancing vision care in children - bridging science, policy, and practice.BMC pediatrics · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
backgroundThis study explores ocular manifestations in children with mutations in key tumor suppressor genes (RB1, NF1, NF2, VHL, TSC1/2), which are linked to common pediatric hereditary cancer syndromes. Mutations in these genes often lead to ocular lesions, particularly in the retina and uveal tract, including the choroid and iris. The expression of these tumor suppressor gene mutations in the eye has been a topic of interest for ophthalmologists and other healthcare professionals. We have summarized the ocular presentations of these common tumor suppressor gene mutations in pediatric patients.
methodsWe reviewed 11 representative case reports, documenting in detail the ocular manifestations and progression of each case. These case studies were analyzed in conjunction with a detailed search of the relevant literature to identify specific ocular features associated with each tumor suppressor gene mutation, as well as potential underlying genetic mechanisms.
resultsOur review indicates that children with mutations in RB1, NF1, NF2, VHL, and TSC1/2 exhibit a diverse range of ocular manifestations, with the specific features varying depending on the type of mutation. Early detection of ocular symptoms is crucial, as it allows for prompt intervention, significantly improving both visual and systemic outcomes. Additionally, these genetic mutations are frequently associated with systemic syndromes, emphasizing the importance of recognizing ocular symptoms and providing timely ophthalmic care and follow-up for early diagnosis and effective management. This highlights the critical role of a multidisciplinary healthcare team in managing these cases.
conclusionsThis study highlights the significance of regular ophthalmic evaluations for children with hereditary cancer syndromes associated with tumor suppressor gene mutations. Early detection and timely intervention are essential for preserving vision and supporting overall development. Given the complexity of these conditions, it is vital for both ophthalmology and other medical specialties to closely collaborate and prioritize these patients. Future research should focus on larger cohort studies and the development of tailored strategies for managing specific gene mutations.
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