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先天性眼外肌纤维化伴少年白发一家系 被引量：7

A family of congenital fibrosis of extraocular muscles associated with juvenile canities
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摘要 目的探讨先天性眼外肌纤维化家系临床表现，诊断和治疗方法。方法回顾性总结和分析了先天性眼外肌纤维化（CFEOM）家系患者的临床特征，包括遗传学特征、性别、年龄、临床表现及手术情况。结果该先天性眼外肌纤维化家系具有常染色体显性遗传特征，为CFEOM1型，14例患者临床表现的共同特征为双眼位于下斜位，上转不到中线，双眼上睑下垂。不同之处为垂直眼位、水平眼位及眼球运动限制各异，部分患者伴有瞳孔异常，异常神经支配和少年白发。根据眼睑和眼位情况可行额肌悬吊术，提上睑肌缩短术，直肌后徙或直肌悬吊术矫正。结论先天性眼外肌纤维化患者临床少见，该先天性眼外肌纤维化家系具有表现型异质性，并伴有瞳孔异常，异常神经支配和毛发异常，以往文献未曾报道。充分掌握临床特征并结合遗传基因分析是做出正确诊断的基础，亦为深入研究该病发病机制提供依据。 Objective To analyze the clinical manifestations of affected individuals in a family of congenital fibrosis of the extraoctdar muscles （CFEOM） with juvenile canities. Methods All affected and unaffected individuals were retrospectively analyzed in this study. The clinical features include genetic aspects, sex, age, ptosis, restriction of eye movement, aberrant innervation and surgical procedures, were evaluated. Results This pedigree was inherited as autosomal dominant. There were 14 cases suffering from congenital fibrosis of extraocular muscles in four generations. They had congenital blepharoptosis, head-tilt, chin lift and primary gaze fixed in a hypotropic position. But vertical and horizontal positions of the eye and restriction of eye movement were different among affected individuals. Some of them also had pupillary abnormally, aberrant innervation and juvenile canities. Inferior rectus recession improved hypotropia in patients with infraducted eyes and chin elevation. Horizontal muscle recession corrected horizontal strabismus satisfactorily in most cases. Ptosis was repaired by frontalis sling or levator resection. Conclusions This is the first report of CFEOM associated with juvenile canities. There was phenotypic heterogeneity in this CFEOM pedigree. So the phenotype alone is not sufficient to distinguish among the 3 genotypically distinct CFEOM syndromes. The combination of clinical characteristics and genetic analysis are the basis for the establishment of diagnosis.
作者 赵军 赵堪兴 李宁东 焦永红 杨永佳 田裕民
机构地区 天津医科大学天津市眼科医院 山东大学第二人民医院眼科
出处 《中华眼科杂志》 CAS CSCD 北大核心 2007年第4期319-323,共5页 Chinese Journal of Ophthalmology
关键词 动眼肌 纤维化 系谱 眼疾病 遗传性 毛发颜色 Oculomotor muscles Fibrosis Pedigree Eye diseases,hereditary Hair color
分类号 R686 [医药卫生—骨科学]
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参考文献14

  • 1Engle EC, Goumnerov BC, McKeown CA, et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann. Neurol. 1997,41:314-325.
  • 2Engle EC, Kunkel LM, Specht LA, et al. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genetics, 1994,7:69-73.
  • 3Yamada K, Andrews C, Chart 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.
  • 4Engle EC, McIntosh N, Yamada K, et al. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result flora mutations in ARIX. BMC Genet, 2002, 3:3.
  • 5Nakano M, Yamada K, Fain J, et al. Homozygons mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet, 2001, 29: 315-320.
  • 6Doherty EJ, 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.
  • 7Mackey DA, Chan WM, Chan C, et al. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.Hum Genet, 2002, 110:510-512.
  • 8Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci, 2005, 46:530-539.
  • 9Engle EC, Marondel I, Houtman WA, et al. Congenital fibrosis of the extraocular muscles ( autosomal dominant congenital external ophthalmoplegia) : genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet, 1995,57 : 1086-1094.
  • 10Engle EC. The molecular basis of the congenital fibrosis syndromes. Strabismus, 2002, 10 : 125-128.

二级参考文献11

  • 1Engle EC,Kunkel LM, Specht LA,et al. Mapping a gene for congenital fibrosis of the extraocular muscle to the centromeric region of chromosome 12. Nat Genet,1994,7:69-73.
  • 2Engle EC, Marondel I, Houtman WA,et al.Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia):genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet,1995,57:1086-1094.
  • 3Wang SM, Zwaan J, Mullaney PB,et al. Congenital fibrosis of the extraocular muscles type 2 (CFEOM2),an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet,1998,63:517-525.
  • 4Doherty EJ, 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.
  • 5Ploughman LM, Boehnke M. Estimating the power of a proposed linkage study for a complex trait. Am J Hum Genet,1989,44:543-551.
  • 6Engle EC, McIntosh N, Yamada K,et al. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet,2002,3:3-10.
  • 7Reck AC, Manners R, Hatchwell E. Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. Br J Ophthalmol,1998,82:676-679.
  • 8Sener EC, Lee BA, Turgut B,et al. A clinical variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophthalmol,2000,118:1090-1097.
  • 9von Noordon GK,Campos EC.Binocular vision and ocular motility. 6th ed.St.Louis:Mosby,2002.458-464.
  • 10Nakano M, Yamada K, Fain J, et al. Homozygous mutations in ARIX result in congenital fibrosis of the extraocular muscles type 2. Nat Genet,2001,29:315-320.

共引文献18

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二级引证文献12

中华眼科杂志
2007年 第4期

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