Article
Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC.
BMC pediatrics - 10 May 2025
Wang Aoxiang, Wang Chanyuan, Li Wen, Qiao Jing, Luo Yulin, Tian Yu
Abstract excerpt
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...
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