Progress and challenges in diagnosis and treatment of Leber's hereditary optic neuropathy_Chinese Journal of Ocular Fundus Diseases

Authors：

 Jiang Libin , Guo Sitong

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China;

Corresponding author：

Jiang Libin, Email: jlbjlb@sina.com

Keywords：

Optic atrophy, hereditary, Leber; Editorial

DOI：

10.3760/cma.j.cn511434-20210727-00399

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Leber's hereditary optic neuropathy (LHON) is a rare hereditary optic nerve disease. At present, the understanding of its etiology and pathogenesis is relatively clear. With the emergence of new drugs such as idebenone and the possibility of gene therapy for LHON, it has brought hope for patients to recover. However, because genetic testing technology has not been widely developed in China, clinical misdiagnosis of LHON as optic neuritis still occurs from time to time. How to make timely identification and correct diagnosis of LHON still poses certain challenges for Chinese ophthalmologists. In addition, in terms of treatment, the choice of treatment methods and treatment costs in the pre-onset (gene mutation carriers) and different periods after the onset of LHON are also huge challenges for patients and their families.

Citation： Jiang Libin, Guo Sitong. Progress and challenges in diagnosis and treatment of Leber's hereditary optic neuropathy. Chinese Journal of Ocular Fundus Diseases, 2021, 37(10): 749-752. doi: 10.3760/cma.j.cn511434-20210727-00399 Copy

1.	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.
2.	Yang S, Chen C, Yuan JJ, et al. Multilocus mitochondrial mutations do not directly affect the efficacy of gene therapy for Leber hereditary optic neuropathy[J]. J Neuroophthalmol, 2020, 40(1): 22-29. DOI: 10.1097/wno.0000000000000797.
3.	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, 2003, 72(2): 333-339. DOI: 10.1086/346066.
4.	Carelli V, Carbonelli M, de Coo IF, et al. International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy[J]. J Neuroophthalmol, 2017, 37(4): 371-381. DOI: 10.1097/WNO.0000000000000570.
5.	Chun BY, Rizzo JF 3rd. Dominant optic atrophy and Leber's hereditary optic neuropathy: update on clinical features and current therapeutic approaches[J]. Semin Pediatr Neurol, 2017, 24(2): 129-134. DOI: 10.1016/j.spen.2017.06.001.
6.	Yu-Wai-Man P, Votruba M, Moore AT, et al. Treatment strategies for inherited optic neuropathies: past, present and future[J]. Eye (Lond), 2014, 28(5): 521-537. DOI: 10.1038/eye.2014.37.
7.	Yu-Wai-Man P. Therapeutic approaches to inherited optic neuropathies[J]. Semin Neurol, 2015, 35(5): 578-586. DOI: 10.1055/s-0035-1563574.
8.	Nikoskelainen E, Hoyt WF, Nummelin K, et al. Fundus findings in Leber's hereditary optic neuroretinopathy. Ⅲ. fluorescein angiographic studies[J]. Arch Ophthalmol, 1984, 102(7): 981-989. DOI: 10.1001/archopht.1984.01040030783017.
9.	Pilz YL, Bass SJ, Sherman J. A review of mitochondrial optic neuropathies: from inherited to acquired forms[J]. J Optom, 2017, 10(4): 205-214. DOI: 10.1016/j.optom.2016.09.003.
10.	Han J, Byun MK, Lee J, et al. Longitudinal analysis of retinal nerve fiber layer and ganglion cell-inner plexiform layer thickness in ethambutol-induced optic neuropathy[J]. Graefe's Arch Clin Exp Ophthalmol, 2015, 253(12): 2293-2299. DOI: 10.1007/s00417-015-3150-8.
11.	Bhagavan HN, Chopra RK. Coenzyme Q10: absorption, tissue uptake, metabolism and pharmacokinetics[J]. Free Radic Res, 2006, 40(5): 445-453. DOI: 10.1080/10715760600617843.
12.	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.
13.	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.
14.	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.
15.	Feuer WJ, Schiffman JC, Davis JL, et al. Gene therapy for Leber hereditary optic neuropathy: initial results[J]. Ophthalmology, 2016, 123(3): 558-570. DOI: 10.1016/j.ophtha.2015.10.025.
16.	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: 1621-1634. DOI: 10.1016/j.ophtha.2017.05.016.
17.	Vignal C, Uretsky S, Fitoussi S, et al. Safety of rAAV2/2-ND4 gene therapy for Leber hereditary optic neuropathy[J]. Ophthalmology, 2018, 125(6): 945-947. DOI: 10.1016/j.ophtha.2017.12.036.

1. 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.
2. Yang S, Chen C, Yuan JJ, et al. Multilocus mitochondrial mutations do not directly affect the efficacy of gene therapy for Leber hereditary optic neuropathy[J]. J Neuroophthalmol, 2020, 40(1): 22-29. DOI: 10.1097/wno.0000000000000797.
3. 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, 2003, 72(2): 333-339. DOI: 10.1086/346066.
4. Carelli V, Carbonelli M, de Coo IF, et al. International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy[J]. J Neuroophthalmol, 2017, 37(4): 371-381. DOI: 10.1097/WNO.0000000000000570.
5. Chun BY, Rizzo JF 3rd. Dominant optic atrophy and Leber's hereditary optic neuropathy: update on clinical features and current therapeutic approaches[J]. Semin Pediatr Neurol, 2017, 24(2): 129-134. DOI: 10.1016/j.spen.2017.06.001.
6. Yu-Wai-Man P, Votruba M, Moore AT, et al. Treatment strategies for inherited optic neuropathies: past, present and future[J]. Eye (Lond), 2014, 28(5): 521-537. DOI: 10.1038/eye.2014.37.
7. Yu-Wai-Man P. Therapeutic approaches to inherited optic neuropathies[J]. Semin Neurol, 2015, 35(5): 578-586. DOI: 10.1055/s-0035-1563574.
8. Nikoskelainen E, Hoyt WF, Nummelin K, et al. Fundus findings in Leber's hereditary optic neuroretinopathy. Ⅲ. fluorescein angiographic studies[J]. Arch Ophthalmol, 1984, 102(7): 981-989. DOI: 10.1001/archopht.1984.01040030783017.
9. Pilz YL, Bass SJ, Sherman J. A review of mitochondrial optic neuropathies: from inherited to acquired forms[J]. J Optom, 2017, 10(4): 205-214. DOI: 10.1016/j.optom.2016.09.003.
10. Han J, Byun MK, Lee J, et al. Longitudinal analysis of retinal nerve fiber layer and ganglion cell-inner plexiform layer thickness in ethambutol-induced optic neuropathy[J]. Graefe's Arch Clin Exp Ophthalmol, 2015, 253(12): 2293-2299. DOI: 10.1007/s00417-015-3150-8.
11. Bhagavan HN, Chopra RK. Coenzyme Q10: absorption, tissue uptake, metabolism and pharmacokinetics[J]. Free Radic Res, 2006, 40(5): 445-453. DOI: 10.1080/10715760600617843.
12. 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.
13. 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.
14. 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.
15. Feuer WJ, Schiffman JC, Davis JL, et al. Gene therapy for Leber hereditary optic neuropathy: initial results[J]. Ophthalmology, 2016, 123(3): 558-570. DOI: 10.1016/j.ophtha.2015.10.025.
16. 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: 1621-1634. DOI: 10.1016/j.ophtha.2017.05.016.
17. Vignal C, Uretsky S, Fitoussi S, et al. Safety of rAAV2/2-ND4 gene therapy for Leber hereditary optic neuropathy[J]. Ophthalmology, 2018, 125(6): 945-947. DOI: 10.1016/j.ophtha.2017.12.036.

Next Article
Interpretation of an evidence-based guideline for the diagnosis and treatment of demyelinating optic neuritis in China (2021)

Chinese Journal of Ocular Fundus Diseases

Progress and challenges in diagnosis and treatment of Leber's hereditary optic neuropathy

Abstract Full text Figures/Tables Video References Cited by

Next Article

Format

Content