摘要
先天性眼球震颤(CN)是一种病因不明的遗传性疾患,大多从婴儿期开始起病,以双侧眼球发作性的节律性摆动为典型症状,其遗传方式有多种,可由多种突变基因引起而具有相似表现型。相关致病基因在染色体上的定位研究仍未明确责任基因。
出处
《国外医学（神经病学．神经外科学分册）》
2003年第3期290-292,共3页
Foreign Medical Sciences（Section On Neurology & Neurosurgery）
参考文献19
-
1Kerrison JB, Koenekoop RK, Amould VJ, et al. Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12.Am Ophthalmology, 1998, 125(1): 64-70.
-
2Patton MA, Jeffery S, Lee N, et al. Congenital nystagmus cosegrgating with a balanced 7; 15 translocation. J Med Genet, 1993, 30(6) : 526 -528.
-
3Stayte M, Reeves B, Wortham C, et al. Ocular and vision defects in preschool children. Br J Ophthalmol, 1993, 77(4): 228-232.
-
4Konuk O, Bilgihan K, Hasanreisoglu B, et al. Laser in situ keratomileusis in an eye with congenital nystagmus. Am J Ophthalmol,2001, 131 (2) : 263 - 265.
-
5Brace JW, Bettine VE, Janyce JM, et al. Randomised double - masked placebo - controlled trial of a treatment for congenital nystagmus. Vision Research, 1998, 38: 2193-2202.
-
6Mellot ML, Brown JM, Gerber S, et al. Clinical characterization and linkage analysis of a family with congesital x- linked nystagmus and deuteranimaly. Arch Ophthamol, 1999, 117(12): 1630-1633.
-
7Abadi RV, Bjerre A. Motor and sentory characteristics of infantile nystagmus. Br J Ophthalmol, 2002, 86(4): 1152- 1160.
-
8Ukwade MT, Bedell HE, White JM. Orientation discrimination and variability of torsional eye position in congenital nystagmus. Vision Rereach, 2002, 42: 2593- 2407.
-
9Sheth NV, Dellosso LF, Leigh RJ, et al. The effects of efferent stimulation on congenital nystagmus foveation periods. Vision Res, 1995, 35(16): 2371-2382.
-
10Weiss All, Biersdorf WR. Visual sensory disorders in congenital nystagmus. Othalmol, 1989, 96: 517-523.
同被引文献2
-
1韩贻凤.先天性冲动性眼球震颤的治疗[J].中华眼科杂志,1987,23(2):88-88.
-
2中国遗传学会眼科遗传协作组.先天性原发性眼球震颤遗传方式的调查报告[J].中华眼科杂志,1987,23(1):43-43.
-
1解正高,吴星伟.药物治疗与基因治疗视网膜色素变性研究进展[J].中国实用眼科杂志,2006,24(12):1244-1246. 被引量：5
-
2赵明,张培建.视觉对视皮质17区神经元超微结构发育的影响[J].青海医学院学报,1997,18(1):7-8.
-
3崔云.视网膜色素变性患者屈光不正的分析[J].长治医学院学报,2007,21(6):449-451. 被引量：1
-
4颜建华,杨少梅.婴儿期屈光性调节性内斜视[J].实用眼科杂志,1996,14(5):302-304. 被引量：7
-
5骆荣江,葛坚.青光眼相关致病基因的研究进展[J].眼科学报,1997,13(4):196-201.
-
6布娟,庞宏蕾,刘峰,刘敬.先天性眼球震颤家系患者的手术治疗及FRMD7基因突变分析[J].中国实用眼科杂志,2016,34(10):1082-1085.
-
7刘承武,覃莉,彭均华,黄龄瑾,罗晓秋,潘尚领.壮族视网膜色素变性家系RHO基因突变的初步筛查[J].中国病理生理杂志,2010,26(A10):2076-2076.
-
8熊世红,赵堪兴,王立.视网膜色素变性分子遗传学研究现状[J].国外医学（眼科学分册）,2000,24(2):87-91. 被引量：2
-
9遗传学[J].中国医学文摘（基础医学）,2005,22(2):65-67.
-
10马玉波.抗类风关不妨试试同位素[J].康复,2014(2):56-56.
