Ocular Manifestations in Pediatric Tumor Suppressor Gene Mutations: A Case Series and Literature Review of RB1, NF1, NF2, VHL, and TSC

Background: This 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. Methods: We 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. Results: Our 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. Conclusions: This 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.