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先天性眼外肌纤维化综合征的研究进展 被引量:3

Progress of researches on CFEOM
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摘要 先天性眼外肌纤维化综合征(CFEOM)是一种常染色体遗传的先天性的外肌功能障碍的非共同性斜视,临床上甚为罕见,表现为非进行性限制性眼外肌麻痹、上睑下垂,牵拉实验阳性,其病因及表现复杂多样,本文就最近国内及国际上对不同类型的CFEOM的神经影像学和分子遗传学研究进展进行综述。 Congenital fibrosis of extraocular muscle syndrome is an autosomal inherited congenital extraocular muscle dysfunction,a non-concomitant strabismus in clinical practice even as the common performance of non-sexual restrictive extraocular muscle paralysis,ptosis,pull test positive for the performance of their etiology and complex and diverse,the author on the recent domestic and international CFEOM on different types of neural imaging and molecular genetics are reviewed for fellow reference.
出处 《临床眼科杂志》 2010年第3期283-285,共3页 Journal of Clinical Ophthalmology
关键词 先天性眼外肌纤维化 神经影像学 分子遗传学 CEFOM Neural imaging Molecular genetics
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参考文献18

  • 1吴丽,周炼红,刘昌盛,查云飞,王炯,邢怡桥.先天性眼外肌纤维化综合征患者的眼外肌及眼运动神经影像学特征[J].中华眼科杂志,2009,45(11):971-976. 被引量:7
  • 2Engle EC,Marondel I,Houtman WA,et al.Congenital fibrosis of the extraocular muscles(autosomal dominant congenital external ophthal moplegia)genetic homogeneity,linkage refinement,and physical mapping on chromosome 12.Am J Hum Cenet,1995,57,1086-1094.
  • 3Engle EC,Kunkel LM,Specht LA,et al.Mapping a genefor congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.Nat GREN,1994,7:69-73.
  • 4Yamada K,Andrews C,Chan WM,et al.Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1(CFEOM1).Nat Genet,2003,35:318-321.
  • 5Anovel.RIF21A Mutation in patient with CFEOM and gunn jawwinking phenomenon.Arch Ophthalmol,2005,123:1254-1259.
  • 6Lin LK,Chien YH,Wu JY,et al.RIF21A gene 2860c>Tmutation in CFEOM1 and 3.Molvis,2005,11:245-248.
  • 7Maree P Flaherty,Elizabeth C Engle,et al.Congenital fibrosis of the Extraocular Muscles Type 1,distinctive conjunctival changes and intrapapillary.disc colobomata.Ophthalmic Gent,30:91-95.
  • 8Shasha LU,Chenzhao.Novel and recurrent RIF21A mutations in congenital fibrosis of extraocular muscles type 1 and 3.Arch Ophthalmol,2008,126:388-394.
  • 9Engle EC.CFEOM1,the classic familial form of congenital fibrosis of the extraocular muscles is genetically heterogeneous but does not result from mutations in ARIX,BMC.Grenet,2002,3:3.
  • 10Naoto kakinuma,Ryoiti Kiyama.A major mutation of RIF21A associated with congenital fibrosis of the extraocular muscles tyle l(CFEOM1)enhances translocation of kank 1 to the membrane.Biochemical and Biophysical Research Communications,2009,386:639-644.

二级参考文献13

  • 1赵晨,陆莎莎,李宁东,陈薇英,赵堪兴.先天性广泛眼外肌纤维化综合征一家系的连锁分析和候选基因研究[J].中华眼科杂志,2005,41(7):594-599. 被引量:19
  • 2Reck AC , Manners R, Hatchwell E. Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. Br J Ophthalmol, 1998,82: 676-679.
  • 3Yazdani A, Traboulsi EI. Classification and management of patients with congenital fibrosis of the extraocular muscles. Ophthalmology, 2004,111:1035-1042.
  • 4Shivaram SM, Engle EC, Petersen RA, et al. Congenital Fibrosis Syndromes. Int Ophthalmol Clin,2001,41 : 105-113.
  • 5Engle EC, Marondel I, Houtmaa WA, el al. Congenial fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia ) genetic homogeneity, linkage refinement, andphysical mapping on chromosome 12. Am J Hum Genet,1995, 57 : 1086-1094.
  • 6Engle EC. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Anil Neurol, 1997, 41:314-325.
  • 7Wang SM, Zwaan J, Mullaney JB, et al. Congenital fibrosis of the extraoeular muscles type 2, an inherited exotropie strabismus fLXUS,maps to distal 11q13. Am J Hum Genet, 1998,63:517- 525.
  • 8Doheay E J, Macy ME, Wang SM, et al. CFEOM3 a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci, 1999,40 : 1687-1694.
  • 9Engle EC. The molecular basis of the congenital fibrosis syndromes. Strabismus,2002,10 : 125-128.
  • 10Kim JH, Hwang JM. Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with Magnetic Resonance Imaging. Ophthalmology, 2005,112:728-723.

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