Research progress of optical coherence tomography and optical coherence tomography angiography in Leber hereditary optic neuropathy_Chinese Journal of Ocular Fundus Diseases

Authors：

Cheng Yufang ,  Chen Changzheng

Department of Ophthalmology, Renmin Hospital of Wuhan University, Wuhan 430060, China;

Corresponding author：

Chen Changzheng, Email: whuchenchzh@163.com

Keywords：

Optic atrophy, hereditary, Leber; Tomography, optical coherence; Review

DOI：

10.3760/cma.j.cn511434-20201124-00582

Video：

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Abstract Full text Figures/Tables Video References Cited by

Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease. It is clinically recognizable by painless, bilateral loss of vision, and the prognosis of vision is generally poor. In recent years, the information provided by optical coherence tomography (OCT) and OCT angiography (OCTA) has greatly improved people's understanding of LHON, and new progress has been made in the intervention and treatment of LHON. A detailed understanding of the structural changes of retina and choroid under OCT and OCTA of the natural course and after treatment of LHON, may provide reference for revealing the pathogenesis, prediction of onset time, differential diagnosis, follow-up of treatment effect and prognosis of LHON.

Citation： Cheng Yufang, Chen Changzheng. Research progress of optical coherence tomography and optical coherence tomography angiography in Leber hereditary optic neuropathy. Chinese Journal of Ocular Fundus Diseases, 2021, 37(10): 821-825. doi: 10.3760/cma.j.cn511434-20201124-00582 Copy

1.	Kerrison JB, Newman NJ. Clinical spectrum of Leber's hereditary optic neuropathy[J]. Clin Neurosci, 1997, 4(5): 295-301.
2.	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. DOI: 10.1080/02713689808951221.
3.	Barboni P, Carbonelli M, Savini G, et al. Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography[J]. Ophthalmology, 2010, 117(3): 623-627. DOI: 10.1016/j.ophtha.2009.07.026.
4.	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. DOI: 10.1016/j.ophtha.2017.01.002.
5.	Wang D, Liu HL, Du YY, et al. Characterisation of thickness changes in the peripapillary retinal nerve fibre layer in patients with Leber's hereditary optic neuropathy[J]. Br J Ophthalmol, 2021, 105(8): 1166-1171. DOI: 10.1136/bjophthalmol-2020-316573.
6.	Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies[J]. Prog Retin Eye Res, 2004, 23(1): 53-89. DOI: 10.1016/j.preteyeres.2003.10.003.
7.	Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies-disease mechanisms and therapeutic strategies[J]. Prog Retin Eye Res, 2011, 30(2): 81-114. DOI: 10.1016/j.preteyeres.2010.11.002.
8.	Howell N. Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve[J]. Vision Res, 1998, 38(10): 1495-1504. DOI: 10.1016/s0042-6989(97)00444-6.
9.	Teng D, Peng CX, Qian HY, et al. Structural impairment patterns in peripapillary retinal fiber layer and retinal ganglion cell layer in mitochondrial optic neuropathies[J]. Int J Ophthalmol, 2018, 11(10): 1643-1648. DOI: 10.18240/ijo.2018.10.11.
10.	Bianco A, Martínez-Romero I, Bisceglia L, et al. Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers[J/OL]. Brain, 2016, 139(Pt 1): e1[2015-07-23]. https://pubmed.ncbi.nlm.nih.gov/26209315/. DOI: 10.1093/brain/awv216.
11.	Borrelli E, Triolo G, Cascavilla ML, et al. Changes in choroidal thickness follow the RNFL changes in Leber's hereditary optic neuropathy[J/OL]. Sci Rep, 2016, 6: 37332[2016-11-17]. https://pubmed.ncbi.nlm.nih.gov/27853297/. DOI: 10.1038/srep37332.
12.	Barboni P, Savini G, Feuer WJ, et al. Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers[J]. Eur J Ophthalmol, 2012, 22(6): 985-991. DOI: 10.5301/ejo.5000154.
13.	刘哲, 孙传宾, 童绎, 等. 相干光断层扫描检测Leber遗传性视神经病变视网膜神经纤维层厚度改变[J]. 中华眼科杂志, 2012, 48(10): 888-892. DOI: 10.3760/cma.j.issn.0412-4081.2012.10.007.Liu Z, Sun CB, Tong Y, et al. Measurement of retinal nerve fiber layer thickness in Leber hereditary optic neuropathy by optical coherence tomography[J]. Chin J Ophthalmol, 2012, 48(10): 888-892. DOI: 10.3760/cma.j.issn.0412-4081.2012.10.007.
14.	Huang S, Chen Q, Ma Q, et al. Three-dimensional characteristics of four macular intraretinal layer thinknesses in symptomatic and asymptomatic carriers of G11778A mutation with Leber's hereditary optic neuropathy[J]. Retina, 2016, 36(12): 2409-2418. DOI: 10.1097/IAE.0000000000001111.
15.	Liu XT, Shen MX, Chen C, et al. Foveal pit morphological changes in asymptomatic carriers of the G11778A mutation with Leber's hereditary optic neuropathy[J]. Int J Ophthalmol, 2020, 13(5): 766-772. DOI: 10.18240/ijo.2020.05.11.
16.	Guy J, Feuer WJ, Porciatti V, et al. Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy[J]. Invest Ophthalmol Vis Sci, 2014, 55(2): 841-848. DOI: 10.1167/iovs.13-13365.
17.	Moster SJ, Moster ML, Scannell Bryan M, et al. Retinal ganglion cell and inner plexiform layer loss correlate with visual acuity loss in LHON: a longitudinal, segmentation OCT analysis[J]. Invest Ophthalmol Vis Sci, 2016, 57(8): 3872-3883. DOI: 10.1167/iovs.15-17328.
18.	Carelli V, La Morgia C, Iommarini L, et al. Mitochondrial optic neuropathies: how two genomes may kill the same cell type?[J]. Biosci Rep, 2007, 27(1-3): 173-184. DOI: 10.1007/s10540-007-9045-0.
19.	Chevrollier A, Guillet V, Loiseau D, et al. Hereditary optic neuropathies share a common mitochondrial coupling defect[J]. Ann Neurol, 2008, 63(6): 794-798. DOI: 10.1002/ana.21385.
20.	Darvizeh F, Asanad S, Falavarjani KG, et al. Choroidal thickness and the retinal ganglion cell complex in chronic Leber's hereditary optic neuropathy: a prospective study using swept-source optical coherence tomography[J]. Eye (Lond), 2020, 34(9): 1624-1630. DOI: 10.1038/s41433-019-0695-5.
21.	Balducci N, Savini G, Cascavilla ML, et al. Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy[J]. Br J Ophthalmol, 2016, 100(9): 1232-1237. DOI: 10.1136/bjophthalmol-2015-307326.
22.	Jurkute N, Yu-Wai-Man P. Leber hereditary optic neuropathy: bridging the translational gap[J]. Curr Opin Ophthalmol, 2017, 28(5): 403-409. DOI: 10.1097/ICU.0000000000000410.
23.	Kerrison JB, Howell N, Miller NR, et al. Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case[J]. Ophthalmology, 1995, 102(10): 1509-1516. DOI: 10.1016/s0161-6420(95)30838-x.
24.	Lam BL, Burke SP, Wang MX, et al. Macular retinal sublayer thicknesses in G11778A Leber hereditary optic neuropathy[J]. Ophthalmic Surg Lasers Imaging Retina, 2016, 47(9): 802-810. DOI: 10.3928/23258160-20160901-02.
25.	Fuhrmann S, Zou C, Levine EM. Retinal pigment epithelium development, plasticity, and tissue homeostasis[J]. Exp Eye Res, 2014, 123: 141-150. DOI: 10.1016/j.exer.2013.09.003.
26.	Venters SJ, Mikawa T, Hyer J. Early divergence of central and peripheral neural retina precursors during vertebrate eye development[J]. Dev Dyn, 2015, 244(3): 266-276. DOI: 10.1002/dvdy.24218.
27.	De Rojas JO, Rasool N, Chen RW, et al. Optical coherence tomography angiography in Leber hereditary optic neuropathy[J]. Neurology, 2016, 87(19): 2065-2066. DOI: 10.1212/WNL.0000000000003313.
28.	Ghasemi Falavarjani K, Tian JJ, Akil H, et al. Swept-source optical coherence tomography angiography of the optic disk in optic neuropathy[J]. Retina, 2016, 36(Suppl 1): S168-177. DOI: 10.1097/IAE.0000000000001259.
29.	Gaier ED, Gittinger JW, Cestari DM, et al. Peripapillary capillary dilation in Leber hereditary optic neuropathy revealed by optical coherence tomographic angiography[J]. JAMA Ophthalmol, 2016, 134(11): 1332-1334. DOI: 10.1001/jamaophthalmol.2016.3593.
30.	Balducci N, Cascavilla ML, Ciardella A, et al. Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker[J]. Clin Exp Ophthalmol, 2018, 46(9): 1055-1062. DOI: 10.1111/ceo.13326.
31.	Kousal B, Kolarova H, Meliska M, et al. Peripapillary microcirculation in Leber hereditary optic neuropathy[J/OL]. Acta Ophthalmol, 2019, 97(1): e71-e76[2018-09-26]. https://pubmed.ncbi.nlm.nih.gov/30259673/. DOI: 10.1111/aos.13817.
32.	Sheremet NL, Shmelkova MS, Andreeva NA, et al. Osobennosti mikrososudistykh izmenenii setchatki i zritel'nogo nerva u patsientov s nasledstvennoi opticheskoi neiropatiei po dannym opticheskoi kogerentnoi tomografii-angiografii [Characteristics of changes in retinal and optic nerve microvascularisature in Leber hereditary optic neuropathy patients seen with optical coherence tomography angiography][J]. Vestn Oftalmol, 2020, 136(2): 171-182. DOI: 10.17116/oftalma2020136042171.
33.	Moon Y, Kim US, Han J, et al. Clinical and optic disc characteristics of patients showing visual recovery in Leber hereditary optic neuropathy[J]. J Neuroophthalmol, 2020, 40(1): 15-21. DOI: 10.1097/WNO.0000000000000830.
34.	Asanad S, Meer E, Fantini M, et al. Leber's hereditary optic neuropathy: shifting our attention to the macula[J]. Am J Ophthalmol Case Rep, 2018, 13: 13-15. DOI: 10.1016/j.ajoc.2018.11.010.
35.	Borrelli E, Balasubramanian S, Triolo G, et al. Topographic macular microvascular changes and correlation with visual loss in chronic Leber hereditary optic neuropathy[J]. Am J Ophthalmol, 2018, 192: 217-228. DOI: 10.1016/j.ajo.2018.05.029.
36.	Weiss JN, Levy S, Benes SC. Stem cell ophthalmology treatment study (SCOTS): bone marrow-derived stem cells in the treatment of Leber's hereditary optic neuropathy[J]. Neural Regen Res, 2016, 11(10): 1685-1694. DOI: 10.4103/1673-5374.193251.
37.	Pemp B, Mitsch C, Kircher K, et al. Changes in visual function and correlations with inner retinal structure in acute and chronic Leber's hereditary optic neuropathy patients after treatment with idebenone[J/OL]. J Clin Med, 2021, 10(1): 151[2021-01-04]. https://pubmed.ncbi.nlm.nih.gov/33406801/. DOI: 10.3390/jcm10010151.
38.	Klopstock T, Yu-Wai-Man P, Dimitriadis K, et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy[J]. Brain, 2011, 134(Pt9): 2677-2686. DOI: 10.1093/brain/awr170.
39.	Pemp B, Kircher K, Reitner A. Visual function in chronic Leber's hereditary optic neuropathy during idebenone treatment initiated 5 to 50 years after onset[J]. Graefe's Arch Clin Exp Ophthalmol, 2019, 257(12): 2751-2757. DOI: 10.1007/s00417-019-04444-6.
40.	Ishikawa H, Masuda Y, Ishikawa H, et al. Characteristics of Japanese patients with Leber's hereditary optic neuropathy and idebenone trial: a prospective, interventional, non-comparative study[J]. Jpn J Ophthalmol, 2021, 65(1): 133-142. DOI: 10.1007/s10384-020-00789-2.
41.	Erb M, Hoffmann-Enger B, Deppe H, et al. Features of idebenone and related short-chain quinones that rescue ATP levels under conditions of impaired mitochondrial complex Ⅰ[J/OL]. PLoS One, 2012, 7(4): e36153[2012-04-27]. https://pubmed.ncbi.nlm.nih.gov/22558363/. DOI: 10.1371/journal.pone.0036153.
42.	Wan X, Pei H, Zhao MJ, et al. Efficacy and safety of rAAV2-ND4 treatment for Leber's hereditary optic neuropathy[J/OL]. Sci Rep, 2016, 6: 21587[2016-02-19]. https://pubmed.ncbi.nlm.nih.gov/26892229/. DOI: 10.1038/srep21587.
43.	杨硕, 刘磊, 裴晗, 等. 腺相关病毒2-ND4基因转染细胞线粒体的研究[J]. 中华实验眼科杂志, 2014, 32(8): 693-695. DOI: 10.3760/cma.j.issn.2096-0160.2014.08.005.Yang S, Liu L, Pei H, et al. Study on transfection of adeno associated virus 2-ND4 gene into mitochondria[J]. Chin J Exp Ophthalmol, 2014, 32(8): 693-695. DOI: 10.3760/cma.j.issn.2096-0160.2014.08.005.
44.	Yang S, Ma SQ, Wan X, et al. Long-term outcomes of gene therapy for the treatment of Leber's hereditary optic neuropathy[J]. EBioMedicine, 2016, 10: 258-268. DOI: 10.1016/j.ebiom.2016.07.002.
45.	Guy J, Feuer WJ, Davis JL, et al. Gene therapy for Leber hereditary optic neuropathy: low-and medium-dose visual results[J]. Ophthalmology, 2017, 124(11): 1621-1634. DOI: 10.1016/j.ophtha.2017.05.016.
46.	Yuan J, Zhang Y, Liu H, et al. Seven-year follow-up of gene therapy for Leber's hereditary optic neuropathy[J]. Ophthalmology, 2020, 127(8): 1125-1127. DOI: 10.1016/j.ophtha.2020.02.023.
47.	Liu HL, Yuan JJ, Zhang Y, et al. Factors associated with rapid improvement in visual acuity in patients with Leber's hereditary optic neuropathy after gene therapy[J/OL]. Acta Ophthalmol, 2020, 98(6): e730-e733[2020-02-24]. https://pubmed.ncbi.nlm.nih.gov/32096343/. DOI: 10.1111/aos.14379.

1. Kerrison JB, Newman NJ. Clinical spectrum of Leber's hereditary optic neuropathy[J]. Clin Neurosci, 1997, 4(5): 295-301.
2. 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. DOI: 10.1080/02713689808951221.
3. Barboni P, Carbonelli M, Savini G, et al. Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography[J]. Ophthalmology, 2010, 117(3): 623-627. DOI: 10.1016/j.ophtha.2009.07.026.
4. 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. DOI: 10.1016/j.ophtha.2017.01.002.
5. Wang D, Liu HL, Du YY, et al. Characterisation of thickness changes in the peripapillary retinal nerve fibre layer in patients with Leber's hereditary optic neuropathy[J]. Br J Ophthalmol, 2021, 105(8): 1166-1171. DOI: 10.1136/bjophthalmol-2020-316573.
6. Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies[J]. Prog Retin Eye Res, 2004, 23(1): 53-89. DOI: 10.1016/j.preteyeres.2003.10.003.
7. Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies-disease mechanisms and therapeutic strategies[J]. Prog Retin Eye Res, 2011, 30(2): 81-114. DOI: 10.1016/j.preteyeres.2010.11.002.
8. Howell N. Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve[J]. Vision Res, 1998, 38(10): 1495-1504. DOI: 10.1016/s0042-6989(97)00444-6.
9. Teng D, Peng CX, Qian HY, et al. Structural impairment patterns in peripapillary retinal fiber layer and retinal ganglion cell layer in mitochondrial optic neuropathies[J]. Int J Ophthalmol, 2018, 11(10): 1643-1648. DOI: 10.18240/ijo.2018.10.11.
10. Bianco A, Martínez-Romero I, Bisceglia L, et al. Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers[J/OL]. Brain, 2016, 139(Pt 1): e1[2015-07-23]. https://pubmed.ncbi.nlm.nih.gov/26209315/. DOI: 10.1093/brain/awv216.
11. Borrelli E, Triolo G, Cascavilla ML, et al. Changes in choroidal thickness follow the RNFL changes in Leber's hereditary optic neuropathy[J/OL]. Sci Rep, 2016, 6: 37332[2016-11-17]. https://pubmed.ncbi.nlm.nih.gov/27853297/. DOI: 10.1038/srep37332.
12. Barboni P, Savini G, Feuer WJ, et al. Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers[J]. Eur J Ophthalmol, 2012, 22(6): 985-991. DOI: 10.5301/ejo.5000154.
13. 刘哲, 孙传宾, 童绎, 等. 相干光断层扫描检测Leber遗传性视神经病变视网膜神经纤维层厚度改变[J]. 中华眼科杂志, 2012, 48(10): 888-892. DOI: 10.3760/cma.j.issn.0412-4081.2012.10.007.Liu Z, Sun CB, Tong Y, et al. Measurement of retinal nerve fiber layer thickness in Leber hereditary optic neuropathy by optical coherence tomography[J]. Chin J Ophthalmol, 2012, 48(10): 888-892. DOI: 10.3760/cma.j.issn.0412-4081.2012.10.007.
14. Huang S, Chen Q, Ma Q, et al. Three-dimensional characteristics of four macular intraretinal layer thinknesses in symptomatic and asymptomatic carriers of G11778A mutation with Leber's hereditary optic neuropathy[J]. Retina, 2016, 36(12): 2409-2418. DOI: 10.1097/IAE.0000000000001111.
15. Liu XT, Shen MX, Chen C, et al. Foveal pit morphological changes in asymptomatic carriers of the G11778A mutation with Leber's hereditary optic neuropathy[J]. Int J Ophthalmol, 2020, 13(5): 766-772. DOI: 10.18240/ijo.2020.05.11.
16. Guy J, Feuer WJ, Porciatti V, et al. Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy[J]. Invest Ophthalmol Vis Sci, 2014, 55(2): 841-848. DOI: 10.1167/iovs.13-13365.
17. Moster SJ, Moster ML, Scannell Bryan M, et al. Retinal ganglion cell and inner plexiform layer loss correlate with visual acuity loss in LHON: a longitudinal, segmentation OCT analysis[J]. Invest Ophthalmol Vis Sci, 2016, 57(8): 3872-3883. DOI: 10.1167/iovs.15-17328.
18. Carelli V, La Morgia C, Iommarini L, et al. Mitochondrial optic neuropathies: how two genomes may kill the same cell type?[J]. Biosci Rep, 2007, 27(1-3): 173-184. DOI: 10.1007/s10540-007-9045-0.
19. Chevrollier A, Guillet V, Loiseau D, et al. Hereditary optic neuropathies share a common mitochondrial coupling defect[J]. Ann Neurol, 2008, 63(6): 794-798. DOI: 10.1002/ana.21385.
20. Darvizeh F, Asanad S, Falavarjani KG, et al. Choroidal thickness and the retinal ganglion cell complex in chronic Leber's hereditary optic neuropathy: a prospective study using swept-source optical coherence tomography[J]. Eye (Lond), 2020, 34(9): 1624-1630. DOI: 10.1038/s41433-019-0695-5.
21. Balducci N, Savini G, Cascavilla ML, et al. Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy[J]. Br J Ophthalmol, 2016, 100(9): 1232-1237. DOI: 10.1136/bjophthalmol-2015-307326.
22. Jurkute N, Yu-Wai-Man P. Leber hereditary optic neuropathy: bridging the translational gap[J]. Curr Opin Ophthalmol, 2017, 28(5): 403-409. DOI: 10.1097/ICU.0000000000000410.
23. Kerrison JB, Howell N, Miller NR, et al. Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case[J]. Ophthalmology, 1995, 102(10): 1509-1516. DOI: 10.1016/s0161-6420(95)30838-x.
24. Lam BL, Burke SP, Wang MX, et al. Macular retinal sublayer thicknesses in G11778A Leber hereditary optic neuropathy[J]. Ophthalmic Surg Lasers Imaging Retina, 2016, 47(9): 802-810. DOI: 10.3928/23258160-20160901-02.
25. Fuhrmann S, Zou C, Levine EM. Retinal pigment epithelium development, plasticity, and tissue homeostasis[J]. Exp Eye Res, 2014, 123: 141-150. DOI: 10.1016/j.exer.2013.09.003.
26. Venters SJ, Mikawa T, Hyer J. Early divergence of central and peripheral neural retina precursors during vertebrate eye development[J]. Dev Dyn, 2015, 244(3): 266-276. DOI: 10.1002/dvdy.24218.
27. De Rojas JO, Rasool N, Chen RW, et al. Optical coherence tomography angiography in Leber hereditary optic neuropathy[J]. Neurology, 2016, 87(19): 2065-2066. DOI: 10.1212/WNL.0000000000003313.
28. Ghasemi Falavarjani K, Tian JJ, Akil H, et al. Swept-source optical coherence tomography angiography of the optic disk in optic neuropathy[J]. Retina, 2016, 36(Suppl 1): S168-177. DOI: 10.1097/IAE.0000000000001259.
29. Gaier ED, Gittinger JW, Cestari DM, et al. Peripapillary capillary dilation in Leber hereditary optic neuropathy revealed by optical coherence tomographic angiography[J]. JAMA Ophthalmol, 2016, 134(11): 1332-1334. DOI: 10.1001/jamaophthalmol.2016.3593.
30. Balducci N, Cascavilla ML, Ciardella A, et al. Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker[J]. Clin Exp Ophthalmol, 2018, 46(9): 1055-1062. DOI: 10.1111/ceo.13326.
31. Kousal B, Kolarova H, Meliska M, et al. Peripapillary microcirculation in Leber hereditary optic neuropathy[J/OL]. Acta Ophthalmol, 2019, 97(1): e71-e76[2018-09-26]. https://pubmed.ncbi.nlm.nih.gov/30259673/. DOI: 10.1111/aos.13817.
32. Sheremet NL, Shmelkova MS, Andreeva NA, et al. Osobennosti mikrososudistykh izmenenii setchatki i zritel'nogo nerva u patsientov s nasledstvennoi opticheskoi neiropatiei po dannym opticheskoi kogerentnoi tomografii-angiografii [Characteristics of changes in retinal and optic nerve microvascularisature in Leber hereditary optic neuropathy patients seen with optical coherence tomography angiography][J]. Vestn Oftalmol, 2020, 136(2): 171-182. DOI: 10.17116/oftalma2020136042171.
33. Moon Y, Kim US, Han J, et al. Clinical and optic disc characteristics of patients showing visual recovery in Leber hereditary optic neuropathy[J]. J Neuroophthalmol, 2020, 40(1): 15-21. DOI: 10.1097/WNO.0000000000000830.
34. Asanad S, Meer E, Fantini M, et al. Leber's hereditary optic neuropathy: shifting our attention to the macula[J]. Am J Ophthalmol Case Rep, 2018, 13: 13-15. DOI: 10.1016/j.ajoc.2018.11.010.
35. Borrelli E, Balasubramanian S, Triolo G, et al. Topographic macular microvascular changes and correlation with visual loss in chronic Leber hereditary optic neuropathy[J]. Am J Ophthalmol, 2018, 192: 217-228. DOI: 10.1016/j.ajo.2018.05.029.
36. Weiss JN, Levy S, Benes SC. Stem cell ophthalmology treatment study (SCOTS): bone marrow-derived stem cells in the treatment of Leber's hereditary optic neuropathy[J]. Neural Regen Res, 2016, 11(10): 1685-1694. DOI: 10.4103/1673-5374.193251.
37. Pemp B, Mitsch C, Kircher K, et al. Changes in visual function and correlations with inner retinal structure in acute and chronic Leber's hereditary optic neuropathy patients after treatment with idebenone[J/OL]. J Clin Med, 2021, 10(1): 151[2021-01-04]. https://pubmed.ncbi.nlm.nih.gov/33406801/. DOI: 10.3390/jcm10010151.
38. Klopstock T, Yu-Wai-Man P, Dimitriadis K, et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy[J]. Brain, 2011, 134(Pt9): 2677-2686. DOI: 10.1093/brain/awr170.
39. Pemp B, Kircher K, Reitner A. Visual function in chronic Leber's hereditary optic neuropathy during idebenone treatment initiated 5 to 50 years after onset[J]. Graefe's Arch Clin Exp Ophthalmol, 2019, 257(12): 2751-2757. DOI: 10.1007/s00417-019-04444-6.
40. Ishikawa H, Masuda Y, Ishikawa H, et al. Characteristics of Japanese patients with Leber's hereditary optic neuropathy and idebenone trial: a prospective, interventional, non-comparative study[J]. Jpn J Ophthalmol, 2021, 65(1): 133-142. DOI: 10.1007/s10384-020-00789-2.
41. Erb M, Hoffmann-Enger B, Deppe H, et al. Features of idebenone and related short-chain quinones that rescue ATP levels under conditions of impaired mitochondrial complex Ⅰ[J/OL]. PLoS One, 2012, 7(4): e36153[2012-04-27]. https://pubmed.ncbi.nlm.nih.gov/22558363/. DOI: 10.1371/journal.pone.0036153.
42. Wan X, Pei H, Zhao MJ, et al. Efficacy and safety of rAAV2-ND4 treatment for Leber's hereditary optic neuropathy[J/OL]. Sci Rep, 2016, 6: 21587[2016-02-19]. https://pubmed.ncbi.nlm.nih.gov/26892229/. DOI: 10.1038/srep21587.
43. 杨硕, 刘磊, 裴晗, 等. 腺相关病毒2-ND4基因转染细胞线粒体的研究[J]. 中华实验眼科杂志, 2014, 32(8): 693-695. DOI: 10.3760/cma.j.issn.2096-0160.2014.08.005.Yang S, Liu L, Pei H, et al. Study on transfection of adeno associated virus 2-ND4 gene into mitochondria[J]. Chin J Exp Ophthalmol, 2014, 32(8): 693-695. DOI: 10.3760/cma.j.issn.2096-0160.2014.08.005.
44. Yang S, Ma SQ, Wan X, et al. Long-term outcomes of gene therapy for the treatment of Leber's hereditary optic neuropathy[J]. EBioMedicine, 2016, 10: 258-268. DOI: 10.1016/j.ebiom.2016.07.002.
45. Guy J, Feuer WJ, Davis JL, et al. Gene therapy for Leber hereditary optic neuropathy: low-and medium-dose visual results[J]. Ophthalmology, 2017, 124(11): 1621-1634. DOI: 10.1016/j.ophtha.2017.05.016.
46. Yuan J, Zhang Y, Liu H, et al. Seven-year follow-up of gene therapy for Leber's hereditary optic neuropathy[J]. Ophthalmology, 2020, 127(8): 1125-1127. DOI: 10.1016/j.ophtha.2020.02.023.
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Research progress of optical coherence tomography and optical coherence tomography angiography in Leber hereditary optic neuropathy

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