Leber遗传性视神经病变1例

冯雨润, 牛丽霞, 刘君

承德医学院学报 ›› 2024, Vol. 41 ›› Issue (6) : 512 -514.

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承德医学院学报 ›› 2024, Vol. 41 ›› Issue (6) : 512 -514.
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Leber遗传性视神经病变1例

    冯雨润1, 牛丽霞2, 刘君2
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Leber遗传性视神经病变 / 视神经萎缩 / 线粒体疾病

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冯雨润, 牛丽霞, 刘君. Leber遗传性视神经病变1例[J]. 承德医学院学报, 2024, 41(6): 512-514 DOI:

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参考文献

[1] Sundaramurthy S, SelvaKumar A, Ching J, et al. Leber hereditary optic neuropathy-new insights and old challenges[J]. Graefes Arch Clin Exp Ophthalmol,2021,259(9): 2461-2472.
[2] Yu-Wai-Man P, Griffiths PG, Howell N, et al. The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England[J]. Am J Hum Genet,2016,98(6): 1271.
[3] Hwang TJ, Karanjia R, Moraes-Filho MN, et al.Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series[J]. Ophthalmology,2017,124(6): 843-850.
[4] 中华医学会医学遗传学分会遗传病临床实践指南撰写组. Leber遗传性视神经病变的临床实践指南[J]. 中华医学遗传学杂志,2020,37(3):284-288.
[5] Mashima Y, Kigasawa K, Shinoda K, et al.Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation[J]. BMC Ophthalmol, 2017, 17(1): 192.
[6] Kieninger S, Xiao T, Weisschuh N, et al.DNAJC30 disease-causing genevariants in a large Central European cohort of patient with suspected Leber’s hereditary optic neuropathy and optic atrophy[J]. J Med Genet,2022,59(10): 1027-1034.
[7] Lam BL, Feuer WJ, Davis JL, et al.Leber Hereditary Optic Neuropathy Gene Therapy: Adverse Events and Visual Acuity Results of All Patient Groups[J]. Am J Ophthalmol,2022,241: 262-271.
[8] Newman NJ, Yu-Wai-Man P, Carelli V, et al. Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset[J]. Ophthalmology,2021,128(5): 649-660.
[9] Zuccarelli M, Vella-Szijj J, Serracino-Inglott A, et al.Treatment of Leber's hereditary optic neuropathy: An overview of recent developments[J]. Eur J Ophthalmol,2020,30(6): 1220-1227.

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