期刊文献+

非共同性斜视遗传学机制研究

Study on Genetic Mechanism of Nonconcomitant Strabismus
下载PDF
导出
摘要 斜视是指两眼不能同时注视目标,属眼外肌疾病,可分为共同性斜视和非共同性斜视两大类。非共同性斜视是指双眼出现眼位偏斜且同时伴有不同程度的眼球运动障碍的一类疾病。研究发现一些非共同性斜视表现出很强的家族性,先天性颅神经支配异常性疾病(CCDDS)和非共同性斜视紧密相关,并用来解释共同性斜视的遗传学机制,该病是由先天性颅神经核及其各自的颅神经发育异常引起的一组疾病,临床表现为相关肌肉运动或联动异常。本文就近年来对先天性颅神经支配异常性疾病的遗传学研究作一综述。 Strabismus refers to the inability of both eyes to look at the target at the same time.It is an extraocular muscle disease and can be divided into two categories:concomitant strabismus and nonconcomitant strabismus.Nonconcomitant strabismus refers to a type of disease in which both eyes appear to be deviated and accompanied by varying degrees of eye movement disorders.Studies have found that some nonconcomitant strabismus show a strong familial nature,and congenital cranial nerve innervation abnormalities(CCDDS)are closely related to nonconcomitant strabismus,and used to explain the genetic mechanism of concomitant strabismus.The disease is a group of diseases caused by congenital cranial nerve nuclei and their respective cranial nerve development abnormalities.The clinical manifestation is abnormal muscle movement or linkage.This article reviews the genetic studies of congenital cranial nerve innervation disorders in recent years.
作者 秦曼 胡敏 QIN Man;HU Min(Kunming Medical University,Kunming 650000,Yunnan,China;Affiliated Hospital of Yunnan University/the Second People’s Hospital of Yunnan Province,Kunming 650000,Yunnan,China)
出处 《医学信息》 2021年第4期49-51,56,共4页 Journal of Medical Information
基金 云南省科技厅——昆明医科大学应用基础研究联合专项面上项目〔编号:2019FE001(-095)〕 昆明医科大学研究生创新基金(编号:2020S227)。
关键词 非共同性斜视 先天性颅神经支配异常性疾病 先天性眼外肌纤维化 DUANE眼球后退综合征 MOBIUS综合征 Nonconcomitant strabismus Congenital cranial nerve innervation abnormalities Congenital extraocular muscle fibrosis Duane's eyeball syndrome Mobius syndrome
  • 相关文献

参考文献2

二级参考文献20

  • 1韩晓梅,赵堪兴,钱学翰.人眼外肌滑车在眼眶立体空间的分布和组织形态学研究[J].中华眼科杂志,2005,41(9):821-825. 被引量:12
  • 2Engle EC, Kunkel LM, Specht LA, et al. Mapping a gene for congenital fibrosis of the extraocular muscles to the oentromeric region of chromosome 12. Nat Genet, 1994, 7:69-73.
  • 3Doherty E, Macy M, Wang S, et al. CFEOM3: extraocular congenital fibrosis syndrome that maps to 16q24. 2- q24.3. InvOpohthalmol BisSci, 1999, 40:1687-1694.
  • 4Johnson KR, Smith L, Johnson DKX, et al. Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11qt3. Genomics, 1996,33: 527-531.
  • 5Merscher S, Bekri S, de Leeuw B, et al. A 5.5 megabase high resolution integrated map of distal 11q13. Genomics, 1997, 39: 340-347.
  • 6Morin X, Cremer H, Hirsch MR, et at. Defects in sensory and autonomic ganglia and absence of locus coeruteus in mice deficient for the homeobox gene Phox2a. Neuron, 1997, 18:411-423.
  • 7Nakano M, Yamada K, Fain J, et al. Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet, 2001, 29: 315-320.
  • 8Zhang XQ, Peng JH, Tang ZH, et al. Mutation p. Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. J Genet Genom, 2006, 33:685-691.
  • 9Martinez-Conde S, Otero-Millan J, Macknik SL. The impact of microsaccades on vision: towards a unified theory of saccadic function[J]. Nat Rev Neurosci, 2013 (14) 83-96.
  • 10Jiao YH, Zhao KX, Wang ZC, et al. Detailed mag- netic resonance imaging findings of the ocular motor nerves in Duane's retraction syndrome [J] . J Pediatr Ophthalmol Strabismus, 2009, 46 (5) : 278-282;.

共引文献8

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部