HJO  >> Vol. 6 No. 2 (June 2017)

    An Early Case of Leber’s Hereditary Optic Neuropathy to Diagnose and Treat

  • 全文下载: PDF(2379KB) HTML   XML   PP.45-50   DOI: 10.12677/HJO.2017.62008  
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王 丹,项 楠,吴晨冕,马思琪,元佳佳,刘 畅,李 斌:华中科技大学同济医学院附属同济医院眼科,湖北 武汉

Leber遗传性视神经病视神经炎母系遗传线粒体眼病早期治疗基因治疗Leber’s Hereditary Optic Neuropathy Optic Neuritis Maternal Inheritance Mitochondrial Eye Disease Early Treatment Gene Therapy


LHON发病是因为线粒体DNA位点突变导致能量不足,视神经细胞萎缩甚至死亡。rAAV2-ND4提供正常的ND4,增加能量供应,有潜力治愈LHON。我们观察了一例视神经受损早期的患者,希望能进一步明确早期诊断、治疗对于LHON的影响,此病例中,患者病程短,发病后迅速予以营养神经、能量供给后患者视力曾恢复至OD:0.8 OS:0.6。

LHON is caused by a point mutation in mtDNA, which leads to a reduction in energy production by the mitochondria. Because optic nerve tissue requires much more energy than other tissues, it becomes severely damaged when energy production drops, and pathological changes in optic nerve cells and even atrophy can occur. Given the results of the present study, it seems potential to suppose that rAAV2-ND4 therapy supplied normal ND4 to the mitochondria, and thus increased energy supply to the optic nerve. We observed an early case to explore how to diagnose and treat matters earlier. In this case, the patient was newly attacked. He got medicine for energy and nerve nutrition almost immediately. His visual acuity of right eye was improved to 0.8, which of the left eye was improved to 0.6.

王丹, 项楠, 吴晨冕, 马思琪, 元佳佳, 刘畅, 李斌. 1例Leber遗传性视神经病变早期诊断和治疗[J]. 眼科学, 2017, 6(2): 45-50. https://doi.org/10.12677/HJO.2017.62008


[1] 周和政. 黄震晞. Leber氏遗传性视神经病变的临床研究进展[J]. 华南国防医学杂志, 2004, 18(6): 33-36.
[2] Martin-Kleiner, I., Cabrilovac, J., Bradvac, M., et al. (2006) Leber’s Hereditary Optic Neuroretinopathy (LHON) Associated with Mitochondrial DNA Point Mutation G11778A in Two Croatian Families. Collegium Antrop-ologicum, 30, 171-174.
[3] Wallace, D.C. (1999) Mitochondrial Diseases in Man and Mouse. Science, 283, 1482-1488.
[4] Brown, M.D., Trounce, I.A., Jun, A.S., et al. (2000) Func-tional Analysis of Lymphoblast and Cybrid Mitochondria Containing the G3460A, G11778A, or T14484C Lbber’s Hereditary Optic Neuroretinopathymitochondrial DNA Mutation. The Journal of Biological Chemistry, 275, 39831-39836.
[5] Quiros, P.Av., Torres, R.J., Salomao, S., et al. (2006) Colour Vision Defects in Asymptomatic Carriers of the Lbber’s Hereditary Optic Neuroretinopathy (LHON) mtDNAG11778A Mutation from a Large Brazilian LHON Pedigree: A Case-Control Study. The British Journal of Ophthalmology, 90, 150-153.
[6] Qu, J., Li, R., Zhou, X., Tong, Y., et al. (2006) The Novel A4435G Mutation in the Mitochondrial tRNAMet May Modulate the Phenotypic Expression of the LHON-Associated ND4 G11778A Mutation. Investigative Ophthalmology & Visual Science, 47, 475-483.
[7] Mashima, Y., Yamada, K., Wakakura, M., Kigasawa, K., Kudoh, J., Shimizu, N., et al. (1998) Spectrum of Pathogenic Mitochondrial DNA Mutations and Clinical Features in Japanese Families with Lbber’s Hereditary Optic Neuroretinopathy. Current Eye Research, 17, 308-403.
[8] 王燕, 郭向明, 贾小云, 黎仕强, 肖学珊, 郭莉, 等. 中国人Leber遗传性视神经病变的原发突变及临床特征[J]. 中华医学遗传杂志, 2005, 22(3): 334-336.
[9] Howell, N. (1997) Lbber Hereditary Optic Neuropathy: Mitochondrial Mutations and Degeneration of the Optic Nerve. Vision Re-search, 37, 3495-3507.
[10] Balcer, L.J. (2006) Clinical Practice. Optic Neuritis. The New England Journal of Medicine, 354, 1273-1280.
[11] Balayre, S., Gicquel, J.J., Mercie, M., et al. (2003) Childhood Leber Hereditaryoptic Neuropathy. A Case of a 6-Year- Old Girl with Loss of Vision. Journal Francais D’Ophtalmologie, 26, 1063-1066.
[12] Koilkonda, R.D., Chou, T.H., Porciatti, V., et al. (2010) Induction of Rapid and Highly Efficient Expression of the Human ND4 Complex I Subunit in the Mouse Visual System by Self-complementary Adeno-Associated Virus. Archives of Ophthalmology, 128, 876-883.