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遗传性先天性眼外肌麻痹

Hereditary congenital external ophthalmoplegia.

作者信息

Houtman W A, van Weerden T W, Robinson P H, de Vries B, Hoogenraad T U

出版信息

Ophthalmologica. 1986;193(4):207-18. doi: 10.1159/000309712.

DOI:10.1159/000309712
PMID:3587876
Abstract

Several members of a large pedigree suffering from hereditary congenital external ophthalmoplegia, an autosomal hereditary disorder of ocular movements, were examined and surgically treated. From nystagmographic findings it was concluded that the main cause of this disorder is of supranuclear origin. Specimen of the inferior oblique muscle revealed no abnormalities or showed decrease of type I muscle fibers.

摘要

对一个患有遗传性先天性眼外肌麻痹(一种常染色体遗传性眼球运动障碍)的大家系中的几名成员进行了检查并实施了手术治疗。根据眼震图检查结果得出结论,该疾病的主要病因源于核上性。下斜肌标本未显示异常或仅显示I型肌纤维减少。

相似文献

1
Hereditary congenital external ophthalmoplegia.遗传性先天性眼外肌麻痹
Ophthalmologica. 1986;193(4):207-18. doi: 10.1159/000309712.
2
[Congenital eye muscle palsies. Electromyographic and electronystagmographic findings in congenital supranuclear lesions (author's transl)].[先天性眼肌麻痹。先天性核上性病变的肌电图和眼震电图检查结果(作者译)]
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1974;192(4):285-312. doi: 10.1007/BF00429991.
3
[Congenital and hereditary ophthalmoplegia externa. (Clinical and electrooculographic study)].[先天性和遗传性外眼肌麻痹。(临床和眼电图研究)]
Riv Otoneurooftalmol. 1969 Mar-Apr;44(2):127-52.
4
Congenital total external ophthalmoplegia associated with infantile spinal muscular atrophy. Fine structure of extraocular muscle.先天性完全性眼外肌麻痹合并婴儿型脊髓性肌萎缩。眼外肌的精细结构。
Invest Ophthalmol. 1976 Apr;15(4):320-4.
5
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles.表型异质性可能发生于先天性眼外肌纤维化。
Br J Ophthalmol. 1998 Jun;82(6):676-9. doi: 10.1136/bjo.82.6.676.
6
[Unilateral congenital malinnervation of several ocular muscles combined with miosis and nystagmus. Electromyographic and pupillographic studies].[数条眼外肌单侧先天性错向支配合并瞳孔缩小及眼球震颤。肌电图和瞳孔图研究]
Klin Monbl Augenheilkd. 1973 Feb;162(2):237-46.
7
Congenital nystagmus: fine structure of human extraocular muscles.先天性眼球震颤:人眼外肌的精细结构
Ophthalmologica. 1995;209(1):1-6. doi: 10.1159/000310564.
8
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.先天性眼外肌纤维化中的动眼神经和肌肉异常
Ann Neurol. 1997 Mar;41(3):314-25. doi: 10.1002/ana.410410306.
9
Autosomal-dominant inheritance of congenital superior oblique palsy.先天性上斜肌麻痹的常染色体显性遗传。
Ophthalmology. 1996 Sep;103(9):1508-11. doi: 10.1016/s0161-6420(96)30475-2.
10
[A family history of congenital fibrosis of the extraocular muscle with autosomal dominant inheritance].[常染色体显性遗传的眼外肌先天性纤维化家族史]
Yi Chuan. 2005 Mar;27(2):205-7.

引用本文的文献

1
Congenital cranial dysinnervation disorders.先天性颅神经支配障碍性疾病
Int Ophthalmol. 2017 Dec;37(6):1369-1381. doi: 10.1007/s10792-016-0388-z. Epub 2016 Nov 11.
2
[Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].[先天性眼外肌纤维化(CFEOM)及先天性颅神经支配障碍综合征(CCDD)的其他表型]
Nervenarzt. 2005 Apr;76(4):395-402. doi: 10.1007/s00115-004-1742-3.
3
Clinical and surgical data of affected members of a classic CFEOM I family.一个典型的先天性纤维性斜视I型(CFEOM I)家系中受累成员的临床和手术数据。
BMC Ophthalmol. 2003 Apr 17;3:6. doi: 10.1186/1471-2415-3-6.
4
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.CFEOM1,即经典的家族性眼外肌先天性纤维化,在遗传上具有异质性,但并非由ARIX基因突变所致。
BMC Genet. 2002;3:3. doi: 10.1186/1471-2156-3-3. Epub 2002 Mar 6.
5
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.先天性眼外肌纤维化(常染色体显性遗传性先天性外眼肌麻痹):遗传同质性、连锁关系细化及12号染色体的物理图谱分析
Am J Hum Genet. 1995 Nov;57(5):1086-94.