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先天性白内障形成的临床特征 被引量:4

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摘要 876例先天性白内障中,先天性致密核性白内障(CDNC)发病率最高,共326例(37.2%),其次为先天性全性白内障(CTC)共198例(22.60%);先天性前极性白内障(CAPC)124例(14.16%);先天性后极性白内障(CPPC)116例(13.24%);先天性绕核性白内障(CPNC)共112例(12.79%),男/女在CDNC中为2.08/1,CTC为2.02/1,CPPC和CAPC中分别为1.9/1和1.47/1,CPNC中最低,为1.33/1,平均男/女为1.86/1。出生后6个月内发病的以CTC和CDNC较为多见,分别为77.27%和46.63%,而其它三种先天性白内障的发病均以3岁后多见,遗传方式AD/AR在CAPC中为3/1;CPPC中,均为AD型遗传,CPNC中为6/1;CDNC中为4.75/1;CTC中为4/1。
出处 《中国实用眼科杂志》 CSCD 1996年第4期206-208,共3页 Chinese Journal of Practical Ophthalmology
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  • 1谢立信,黄钰森.先天性白内障的手术治疗[J].中国斜视与小儿眼科杂志,2003,11(4):150-155. 被引量:24
  • 2周凤玲,辜平,苏旭,龚春桃,刘衍琴.护士对住院患儿家属的护理支持及家属满意度调查[J].护理学杂志,2007,22(5):11-13. 被引量:13
  • 3Hejtmancik JF. Congenital cataracts and their molecular genet- ics [ J ]. Semin Cell Dev Biol,2008,19 ( 2 ) : 134-149.
  • 4Liu M,Ke T,Wang Z,Yang Q,Chang W,Jiang F,et al. Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family[ J]. Invest Ophthalmol Vis Sci, 2006,47 ( 8 ) : 3461-3466.
  • 5Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, et al. Alpha-B crystallin gene (CRYAB) mutation causes domi- nant congenital posterior polar cataract in humans [ J ]. Am J Hum Genet ,2001,69 ( 5 ) : 1141-1145.
  • 6Gu Z,Ji B,Wan C,He G,Zhang J,Zhang M,et al. A splice site mu- tation in CRYBAl/A3 causing autosomal dominant posterior po- lar cataract in a Chinese pedigree[J]. Mol Vis ,2010,16 : 154-160.
  • 7Yao K,Li J,Jin C,Wang W,Zhu Y,Shentu X,et al. Characteriza- tion of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family[ J]. Mol Vis ,2011,17 : 144-152.
  • 8Devi RR, Vijayalakshrai P. Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea [ J ]. Mol Vis,2006,12 : 190-195.
  • 9Berry V, Yang Z, Addison PK, Francis P J, Ionides A, Karan G, et al. Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract(CPP4) [ J]. J Med Genet,2004,41 (8) :el09.
  • 10Addison PK, Berry V, Ionides AC, Francis PJ, Bhattacharya SS, Moore AT. Posterior polar cataract is the predominant conse- quence of a recurrent mutation in the PITX3 gene [ J ]. Br J Ophthalmol ,2005 ,89 ( 2 ) :138-141.

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