The status and advances in the application of optical coherence tomography and optical coherence tomography angiography in Leber's hereditary optic neuropathy_Chinese Journal of Ocular Fundus Diseases

Authors：

 Gong Hongxia

Tianjin Eye Hospital, Tianjin Key Laboratory of Ophthalmology and Visual Science, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin 300020, China;

Corresponding author：

Gong Hongxia, Email: ghx35@163.com

Keywords：

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

DOI：

10.3760/cma.j.cn511434-20200330-00138

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Leber hereditary optic neuropathy is an optic neuropathy associated with mitochondrial DNA. The disease affects young men mainly, which is considered to be due to denaturation of the retinal nerve ganglion cell and axonal loss of optic nerve, leading to optic atrophy. Nowadays, there are some development in studying Leber hereditary optic neuropathy by optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). It is great help to know the disease, forecast the progression of disease, and take action on intervention. In addition, there is a lack of in-depth study on OCT and OCTA characteristics among different mutation sites of LHON, different genders of the same site, different families of the same site or even different branches of the same family. It is expected to be improved in the future work.

Citation： Gong Hongxia. The status and advances in the application of optical coherence tomography and optical coherence tomography angiography in Leber's hereditary optic neuropathy. Chinese Journal of Ocular Fundus Diseases, 2021, 37(3): 245-247. doi: 10.3760/cma.j.cn511434-20200330-00138 Copy

1.	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.
2.	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.
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.	Matsuzaki M, Hirami Y, Uyama H, et al. Optical coherence tomography angiography changes in radial peripapillary capillaries in Leber hereditary optic neuropathy[J]. Am J Ophthalmol Case Rep, 2018, 4(9): 51-55. DOI: 10.1016/j.ajoc.2018.01.003.
5.	Barboni P, Savini G, Valentino ML, et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy[J]. Ophthalmology, 2005, 112(1): 120-126. DOI: 10.1016/j.ophtha.2004.06.034.
6.	Pan BX, Ross-Cisneros FN, Carelli V, et al. Mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy[J]. Invest Ophthalmol Vis Sci, 2012, 53(12): 7608-7617. DOI: 10.1167/iovs.12-10452.
7.	Culea C, Tăbăcaru B, Stanca S, et al. Leber's hereditary optic neuropathy-case discussion[J]. Rom J Ophthalmol, 2019, 63(1): 91-101. DOI: 10.22336/rjo.2019.14.
8.	Yang S, Yang H, Ma SQ, et al. Evaluation of Leber's hereditary optic neuropathy patients prior to a gene therapy clinical trial[J/OL]. Medicine (Baltimore), 2016, 95(40): e5110[2016-10-07]. https://pubmed.ncbi.nlm.nih.gov/27749593/. DOI: 10.1097/MD.0000000000005110.
9.	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: 2677-2686. DOI: 10.1093/brain/awr170.
10.	Lorga RE, Moraru A, Ozturk MR, et al. The role of optical coherence tomography in optic neuropathies[J]. Rom J Ophthalmol, 2018, 62(1): 3-14. DOI: 10.22336/rjo.2018.2.
11.	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.
12.	Majander A, Robson AG, João C, et al. The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy[J]. Mitochondrion, 2017, 36: 138-149. DOI: 10.1016/j.mito.2017.07.006.
13.	Barcella V, Rocca MA, Bianchi-Marzoli S, et al. Evidence for retrochiasmatic tissue loss in Leber’s hereditary optic neuropathy[J]. Hum Brain Mapp, 2010, 31(12): 1900-1906. DOI: 10.1002/hbm.20985.
14.	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.
15.	Zhang Y, Huang H, Wei S, et al. Characterization of macular thickness changes in Leber's hereditary optic neuropathy by opticalcoherence tomography[J/OL]. BMC Ophthalmol, 2014, 14: 105[2014-09-01]. https://pubmed.ncbi.nlm.nih.gov/25179213/. DOI: 10.1186/1471-2415-14-105.
16.	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.
17.	滕达, 杨沫, 彭春霞, 等. Leber遗传性视神经病变患者外显率和视网膜神经纤维层及黄斑厚度观察[J]. 中华眼底病杂志, 2019, 35(3): 235-241. DOI: 10.3760/cma.j.issn.1005-1015.2019.03.005.Teng D, Yang M, Peng CX, et al. Observation of penetrance and retinal nerve fiber layer and macular thickness in patients with Leber's hereditary optic neuropathy[J]. Chin J Ocul Fundus Dis, 2019, 35(3): 235-241. DOI: 10.3760/cma.j.issn.1005-1015.2019.03.005.
18.	Asanad S, Meer E, Tian JJ, et al. Leber's hereditary optic neuropathy: severe vascular pathology in a severe primary mutation[J]. Intractable Rare Dis Res, 2019, 8(1): 52-55. DOI: 10.5582/irdr.2018.01126.
19.	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.
20.	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(1): S168-177. DOI: 10.1097/IAE.0000000000001259.
21.	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.
22.	Savini G, Barboni P, Valentino ML, et al. Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber’s hereditary optic neuropathy mutations[J]. Ophthalmology, 2005, 112(1): 127-131. DOI: 1016/j.ophtha.2004.09.033.

1. 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.
2. 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.
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. Matsuzaki M, Hirami Y, Uyama H, et al. Optical coherence tomography angiography changes in radial peripapillary capillaries in Leber hereditary optic neuropathy[J]. Am J Ophthalmol Case Rep, 2018, 4(9): 51-55. DOI: 10.1016/j.ajoc.2018.01.003.
5. Barboni P, Savini G, Valentino ML, et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy[J]. Ophthalmology, 2005, 112(1): 120-126. DOI: 10.1016/j.ophtha.2004.06.034.
6. Pan BX, Ross-Cisneros FN, Carelli V, et al. Mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy[J]. Invest Ophthalmol Vis Sci, 2012, 53(12): 7608-7617. DOI: 10.1167/iovs.12-10452.
7. Culea C, Tăbăcaru B, Stanca S, et al. Leber's hereditary optic neuropathy-case discussion[J]. Rom J Ophthalmol, 2019, 63(1): 91-101. DOI: 10.22336/rjo.2019.14.
8. Yang S, Yang H, Ma SQ, et al. Evaluation of Leber's hereditary optic neuropathy patients prior to a gene therapy clinical trial[J/OL]. Medicine (Baltimore), 2016, 95(40): e5110[2016-10-07]. https://pubmed.ncbi.nlm.nih.gov/27749593/. DOI: 10.1097/MD.0000000000005110.
9. 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: 2677-2686. DOI: 10.1093/brain/awr170.
10. Lorga RE, Moraru A, Ozturk MR, et al. The role of optical coherence tomography in optic neuropathies[J]. Rom J Ophthalmol, 2018, 62(1): 3-14. DOI: 10.22336/rjo.2018.2.
11. 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.
12. Majander A, Robson AG, João C, et al. The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy[J]. Mitochondrion, 2017, 36: 138-149. DOI: 10.1016/j.mito.2017.07.006.
13. Barcella V, Rocca MA, Bianchi-Marzoli S, et al. Evidence for retrochiasmatic tissue loss in Leber’s hereditary optic neuropathy[J]. Hum Brain Mapp, 2010, 31(12): 1900-1906. DOI: 10.1002/hbm.20985.
14. 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.
15. Zhang Y, Huang H, Wei S, et al. Characterization of macular thickness changes in Leber's hereditary optic neuropathy by opticalcoherence tomography[J/OL]. BMC Ophthalmol, 2014, 14: 105[2014-09-01]. https://pubmed.ncbi.nlm.nih.gov/25179213/. DOI: 10.1186/1471-2415-14-105.
16. 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.
17. 滕达, 杨沫, 彭春霞, 等. Leber遗传性视神经病变患者外显率和视网膜神经纤维层及黄斑厚度观察[J]. 中华眼底病杂志, 2019, 35(3): 235-241. DOI: 10.3760/cma.j.issn.1005-1015.2019.03.005.Teng D, Yang M, Peng CX, et al. Observation of penetrance and retinal nerve fiber layer and macular thickness in patients with Leber's hereditary optic neuropathy[J]. Chin J Ocul Fundus Dis, 2019, 35(3): 235-241. DOI: 10.3760/cma.j.issn.1005-1015.2019.03.005.
18. Asanad S, Meer E, Tian JJ, et al. Leber's hereditary optic neuropathy: severe vascular pathology in a severe primary mutation[J]. Intractable Rare Dis Res, 2019, 8(1): 52-55. DOI: 10.5582/irdr.2018.01126.
19. 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.
20. 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(1): S168-177. DOI: 10.1097/IAE.0000000000001259.
21. 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.
22. Savini G, Barboni P, Valentino ML, et al. Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber’s hereditary optic neuropathy mutations[J]. Ophthalmology, 2005, 112(1): 127-131. DOI: 1016/j.ophtha.2004.09.033.

Chinese Journal of Ocular Fundus Diseases

The status and advances in the application of optical coherence tomography and optical coherence tomography angiography in Leber's hereditary optic neuropathy

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