Ocular abnormalities in Apert syndrome: Genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations
Ocular abnormalities in Apert syndrome: Genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations
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DOI：
10.1016/j.jaapos.2006.07.012
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发表时间：
2006-12-01
期刊：
影响因子：
1.6
通讯作者：
Young, Terri L.
中科院分区：
文献类型：
--
作者：
Jadico, Suzanne K.;Young, David A.;Young, Terri L.
背景/目的Apert综合征是由成纤维细胞生长因子受体2基因的点突变（Ser252Trp或Pro253Arg）引起的，是一种颅缝闭合、并指畸形和其他颅面畸形的疾病。本研究的目的是确定任何一种突变患者的眼科表型/基因型相关性。方法回顾性分析18例携带S252W（11例）或P253R（7例）突变的儿童的人口统计学和眼科资料。进行Fisher精确检验以确定两个突变组之间可变表型的显著性。结果在P253R组中，85%的患者有斜视（14%需要手术），71%的患者有上睑下垂，43%的患者有弱视，14%的患者有鼻泪管阻塞，14%的患者有近视，14%的患者有远视，14%的患者有散光。在S252，V组中，91%的患者有斜视（64%需要手术），73%的患者有上睑下垂，73%的患者有弱视，100%的患者有鼻泪管阻塞，36%的患者有近视，9%的患者有远视，82%的患者有散光。总体而言，S252W组和P253R组需要手术治疗的斜视（p = 0.039）、上直肌欠动（p = 0.024）、鼻泪管阻塞（p = 0.0002）和散光（p = 0.005）的患者数量差异有统计学意义。结论与P253R突变患者相比，S252W突变的Apert综合征患者可能具有更严重的眼部表型，发生斜视的可能性更高，尤其是垂直偏差。他们也更容易发展散光屈光不正和撕裂继发于鼻泪系统异常。
BACKGROUND/PURPOSE Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to determine ophthalmic phenotype/genotype correlatious in patients with either mutation.METHODS A retrospective chart review of demographic and ophthalmologic data was performed for 18 children carrying either the S252W (11) or the P253R (7) mutation. Fisher exact tests were performed to determine significance of variable phenotypes between the two mutation groups.RESULTS In the P253R group, 85% had strabismus (14% required surgery), 71% had ptosis, 43% had amblyopia, 14% had nasolacrimal duct obstruction, 14% had myopia, 14% had hyperopia, and 14% had astigmatism. In the S252,V group, 91% had strabismus (64% required surgery), 73% had ptosis, 73% had amblyopia, 100% had nasolacrinial duct obstruction, 36% had myopia, 9% had hyperopia, and 82% had astigmatism. Overall, S252W and P253R groups showed significantly different numbers of patients with strabismus requiring surgery (p = 0.039), superior rectus muscle underaction (p = 0.024), nasolacrinial duct obstruction (p = 0.0002), and astigmatism (p = 0.005).CONCLUSIONS Compared with patients with the P253R mutation, Apert syndrome patients with the S252W mutation may have more severe ocular phenotypes with a higher likelihood of developing strabismus, especially vertical deviation. They also are more likely to develop astigmatic refractive errors and tearing secondary to nasolacrinial system anomalies.