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小睑裂综合征的临床观察 被引量:2

The Clinical Evaluation of Blepharophimosis-ptosis-epicanthusinversus Syndrome(BPES)
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摘要 目的探讨小睑裂综合征的临床特点,对视觉发育的影响及遗传学研究的新进展。方法回顾性分析我院1992年11月至2003年7月间收治的小睑裂综合征34例。结果全部病例行同期或分期的内眦开大和上睑下垂矫正术;7例有家族史;16例有完整的散瞳验光结果,14例双眼有不同程度的弱视;随访时间3个月~6年8个月。结论小睑裂综合征病人屈光不正和弱视的发生率远高于正常人群,应尽早手术治疗和视觉干预。 Purpose To discuss the relation between blepharophimosis-ptosis-epicanthusinversus syndrome (BPES) and visual development, and to evaluate the clinical characteristics and the genetic progress of BPES from November 1992 to July 2003.Methods 34 cases of BPES were retrospectively revewed.Results All of the 34 cases were treated by surgery. 16 of these cases had cycloplegic refraction, 14 cases had amblyopia with different severity; and 7 cases had family history of this condition.Conclusion The risk of refractive error and amblyopia in patients with BPES is much higher than that of normal population,so careful regular visual follow-up and early surgery are necessary.
出处 《中国眼耳鼻喉科杂志》 2004年第3期174-175,共2页 Chinese Journal of Ophthalmology and Otorhinolaryngology
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  • 1Crisponi L, Deiana M, Loi A, et al. The putative forkhead transcription factor FOXL2 is mutated in Blepharophimmis-ptosis-epicanthus inversus syndrome. Nat Genet,2001,27(2) : 159-166. 被引量:1
  • 2De Baeve E, Dixon MJ, Small KW, et al. ,Spectrum of FOXL2 gene mutations in Blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstratees a genotype-epicanthus correlation. Human Molecular Genetics,2001,10(10) : 1591-1600. 被引量:1
  • 3Dollfus H, Stoetzel C, Riehm S, et al. Sporadic and familial blepharophimosis-ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clin Genet,2003,63(1):117-120. 被引量:1
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