Wang Aoxiang, Wang Chanyuan, Li Wen, Qiao Jing, Luo Yulin, Tian Yu
Department of Ophthalmology, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, 410078, Hunan, China.
Pediatrics Research Institute of Hunan Province, The Affiliated Children's Hospital Of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, 410078, Hunan, China.
BMC Pediatr. 2025 May 10;25(1):371. doi: 10.1186/s12887-025-05694-6.
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.
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.
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.
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.
本研究探讨关键肿瘤抑制基因（RB1、NF1、NF2、VHL、TSC1/2）发生突变的儿童的眼部表现，这些基因与常见的儿科遗传性癌症综合征相关。这些基因的突变常导致眼部病变，尤其是视网膜和葡萄膜，包括脉络膜和虹膜。这些肿瘤抑制基因突变在眼部的表达一直是眼科医生和其他医疗保健专业人员感兴趣的话题。我们总结了儿科患者中这些常见肿瘤抑制基因突变的眼部表现。
我们回顾了11份代表性病例报告，详细记录了每个病例的眼部表现和病情进展。结合对相关文献的详细检索对这些病例研究进行分析，以确定与每种肿瘤抑制基因突变相关的特定眼部特征以及潜在的遗传机制。
我们的综述表明，RB1、NF1、NF2、VHL和TSC1/2发生突变的儿童表现出多种多样的眼部表现，具体特征因突变类型而异。早期发现眼部症状至关重要，因为这可以及时进行干预，显著改善视力和全身预后。此外，这些基因突变常与全身综合征相关，强调了识别眼部症状并提供及时眼科护理及随访以进行早期诊断和有效管理的重要性。这突出了多学科医疗团队在管理这些病例中的关键作用。
本研究强调了对患有与肿瘤抑制基因突变相关的遗传性癌症综合征的儿童进行定期眼科评估的重要性。早期发现和及时干预对于保护视力和支持整体发育至关重要。鉴于这些病症的复杂性，眼科和其他医学专科密切合作并优先关注这些患者至关重要。未来的研究应侧重于更大规模的队列研究以及制定针对特定基因突变的管理策略。
