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先天性静止性夜盲研究进展 被引量:2

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摘要 先天性静止性夜盲(congenital stationary night blindness,CSNB)是指一组遗传性、非进展性的视网膜疾病,主要以视杆细胞功能异常为特征,导致夜视力受损。其发病机制复杂,至今尚未阐明。目前通过暗适应阈值测量和ERG检查能够对大多数CSNB作出诊断。近年来,随着分子遗传学的发展,在该病的基因研究方面也取得了新的进展。本文对各种类型的CSNB的暗适应阈值测量方法、视觉电生理特征和基因缺陷研究等内容作一综述。
作者 李序 刘晓玲
出处 《国外医学(眼科学分册)》 2004年第6期397-400,共4页 Foreign Medical Sciences(Section of Ophthalmology )
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参考文献23

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同被引文献12

  • 1睢瑞芳,赵家良.先天性静止性夜盲[J].中华眼科杂志,2006,42(5):472-475. 被引量:8
  • 2单明华,李杨.结晶样视网膜变性研究进展[J].国际眼科纵览,2006,30(4):220-223. 被引量:6
  • 3Haim M. Congenital stationary night blindness[J]. Acta Ophthal- mol(Copenh), 1986,64(2) : 192-198.
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  • 5Naee MA,Chavali RM,Ali S,et al.GNAT1 Associated with Auto- somal Recessive Congenital Stationary Night Blindness[J]. In- vest Ophthalmol Vis Sci,2012,53(3):1353-1361.
  • 6Kabanarou SA, Holder GE, Fitzke FW, et al. congenital station- ary night blindness and a Schubert-Bornschein type electrophys- iology in a family with dominant inheritance[J]. Br J Ophthal- mol,2004,88(8) : 1015-1022.
  • 7Morimura H, Berson EL, Dryja TP.Recessive mutations in the rlbpl gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens [J]. Invest Ophthalmol Vis Sci, 1999,40(5) : 1001-1004.
  • 8Kremer H,Wijk E van, Tina Marker T, et al. Usher syndrome: molecular links of pathogenesis, proteins and pathways [J]. Hu- man Molecular Genetics,2006,15(2) :262-270.
  • 9孙传宾,刘哲,潘伟华,薛安全.无色素性视网膜色素变性3例[J].眼视光学杂志,2008,10(3):189-189. 被引量:2
  • 10张军军.眼底白点症和白点状视网膜变性[J].中华眼底病杂志,1998,14(1):49-49. 被引量:4

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