误诊为视神经炎的Leber遗传性视神经病变一例_West China Medical Journal

Authors：

 刘海 ,  张勤

四川大学华西医院神经内科（成都 610041）;

Corresponding author：

张勤, Email: qinqin198@163.com

Keywords：

Leber遗传性视神经病; 视神经炎; 母系遗传; 线粒体眼病

DOI：

10.7507/1002-0179.20150183

Video：

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Citation： 刘海, 张勤. 误诊为视神经炎的Leber遗传性视神经病变一例. West China Medical Journal, 2015, 30(4): 629-630. doi: 10.7507/1002-0179.20150183 Copy

1.	Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy[J]. Science, 1988, 242(4884):1427-1430.
2.	Yen MY, Wang AG, Chang WL, et al. Leber's hereditary optic neuropathy:the spectrum of mitochondrial DNA mutations in Chinese patients[J]. Jpn J Ophthalmol, 2002, 46(1):45-51.
3.	Mashima Y, Yamada K, Wakakura M, et al. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy[J]. Curr Eye Res, 1998, 17(4):403-408.
4.	张丽珊, 黄鹰, 李方园, 等. 中国人Leber遗传性视神经病家系线粒体DNA突变的研究[J]. 中华医学杂志, 1994, 74(6):349-351, 390.
5.	Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation[J]. Am J Ophthalmol, 1991, 111(6):750-762.
6.	Man PY, Griffiths PG, Brown DT, et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England[J]. Am J Hum Genet, 2003, 72(2):333-339.
7.	Sadun AA, Carelli V, Salomao SR, et al. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy[J]. Am J Ophthalmol, 2003, 136(2):231-238.
8.	Mulliez E, Blanckaert M, Blanckaert J. Acute manifestation of LHON and coincidental finding of a pituitary adenoma:a case report[J]. Bull Soc Belge Ophtalmol, 2000(277):35-42.
9.	赖春涛, 杨凌, 尚军, 等. Leber遗传性视神经病的线粒体基因突变及临床特征[J]. 中国神经精神疾病杂志, 2005, 31(1):8-10, 86.
10.	张新愉, 于强, 欧杰雄, 等. mtDNA11778点突变阳性的Leber遗传性视神经病变的临床分析[J]. 中国实用眼科杂志, 2003, 21(8):576-578.
11.	Balayre S, Gicquel JJ, Mercie M, et al. Childhood Leber hereditary optic neuropathy. A case of a 6-year-old girl with loss of vision[J]. J Fr Ophtalmol, 2003, 26(10):1063-1066.
12.	Koilkonda RD, Chou TH, Porciatti V, et al. Induction of rapid and highly efficient expression of the human ND4 complexⅠ subunit in the mouse visual system by self-complementary adeno-associated virus[J]. Arch Ophthalmol, 2010, 128(7):876-883.
13.	Howell N, Miller NR, Mackey DA, et al. Lightning strikes twice:Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations[J]. J Neuroophthalmol, 2002, 22(4):262-269.
14.	余重阳, 顾虹, 徐军, 等. 遗传性Leber视神经病变家系致病基因突变分析[J]. 中华眼科杂志, 2011, 47(12):1080-1083.
15.	Oguchi Y. Past, present, and future in Leber's hereditary optic neuropathy[J]. Nihon Ganka Gakkai Zasshi, 2001, 105(12):809-827.

1. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy[J]. Science, 1988, 242(4884):1427-1430.
2. Yen MY, Wang AG, Chang WL, et al. Leber's hereditary optic neuropathy:the spectrum of mitochondrial DNA mutations in Chinese patients[J]. Jpn J Ophthalmol, 2002, 46(1):45-51.
3. Mashima Y, Yamada K, Wakakura M, et al. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy[J]. Curr Eye Res, 1998, 17(4):403-408.
4. 张丽珊, 黄鹰, 李方园, 等. 中国人Leber遗传性视神经病家系线粒体DNA突变的研究[J]. 中华医学杂志, 1994, 74(6):349-351, 390.
5. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation[J]. Am J Ophthalmol, 1991, 111(6):750-762.
6. Man PY, Griffiths PG, Brown DT, et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England[J]. Am J Hum Genet, 2003, 72(2):333-339.
7. Sadun AA, Carelli V, Salomao SR, et al. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy[J]. Am J Ophthalmol, 2003, 136(2):231-238.
8. Mulliez E, Blanckaert M, Blanckaert J. Acute manifestation of LHON and coincidental finding of a pituitary adenoma:a case report[J]. Bull Soc Belge Ophtalmol, 2000(277):35-42.
9. 赖春涛, 杨凌, 尚军, 等. Leber遗传性视神经病的线粒体基因突变及临床特征[J]. 中国神经精神疾病杂志, 2005, 31(1):8-10, 86.
10. 张新愉, 于强, 欧杰雄, 等. mtDNA11778点突变阳性的Leber遗传性视神经病变的临床分析[J]. 中国实用眼科杂志, 2003, 21(8):576-578.
11. Balayre S, Gicquel JJ, Mercie M, et al. Childhood Leber hereditary optic neuropathy. A case of a 6-year-old girl with loss of vision[J]. J Fr Ophtalmol, 2003, 26(10):1063-1066.
12. Koilkonda RD, Chou TH, Porciatti V, et al. Induction of rapid and highly efficient expression of the human ND4 complexⅠ subunit in the mouse visual system by self-complementary adeno-associated virus[J]. Arch Ophthalmol, 2010, 128(7):876-883.
13. Howell N, Miller NR, Mackey DA, et al. Lightning strikes twice:Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations[J]. J Neuroophthalmol, 2002, 22(4):262-269.
14. 余重阳, 顾虹, 徐军, 等. 遗传性Leber视神经病变家系致病基因突变分析[J]. 中华眼科杂志, 2011, 47(12):1080-1083.
15. Oguchi Y. Past, present, and future in Leber's hereditary optic neuropathy[J]. Nihon Ganka Gakkai Zasshi, 2001, 105(12):809-827.

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误诊为视神经炎的Leber遗传性视神经病变一例

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