Research & Literature

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

Yu-Wai-Man P, Hudson G, Klopstock T, Chinnery PF

Brain : a journal of neurology 2016; (139(Pt 3)):e18 doi:10.1093/brain/awv340.

Atypical Leber Hereditary Optic Neuropathy: 18 Year Interval Between Eyes.

Ohden KL, Tang PH, Lilley CC, Lee MS

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2016; (36(3)):304 doi:10.1097/WNO.0000000000000346.

Beyond what the eye can see.

Ahmad KE, Fraser CL, Sue CM, Barton JJ

Survey of ophthalmology 2016; (61(5)):674-9.

Optical coherence tomography angiography in Leber hereditary optic neuropathy.

De Rojas JO, Rasool N, Chen RW, et al.

Neurology 2016; (87(19)):2065-2066 doi:10.1212/WNL.0000000000003313.

The Eye Drop Preservative Benzalkonium Chloride Potently Induces Mitochondrial Dysfunction and Preferentially Affects LHON Mutant Cells.

Datta S, Baudouin C, Brignole-Baudouin F, et al.

Investigative ophthalmology & visual science 2017; (58(4)):2406-2412 doi:10.1167/iovs.16-20903.

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

Carelli V, Carbonelli M, de Coo IF, et al.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2017; (37(4)):371-381 doi:10.1097/WNO.0000000000000570.

Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy.

Lu Q, Guo Y, Yi J, et al.

Optometry and vision science : official publication of the American Academy of Optometry 2017; (94(12)):1090-1094 doi:10.1097/OPX.0000000000001147.

Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy.

Orssaud C

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2018; (38(4)):466-469 doi:10.1097/WNO.0000000000000623.

Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation.

Cui S, Jiang H, Peng J, et al.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2019; (39(1)):56-59 doi:10.1097/WNO.0000000000000644.

What are the characteristics and progression of visual field defects in patients with Leber hereditary optic neuropathy: a prospective single-centre study in China.

Liu HL, Yuan JJ, Tian Z, et al.

BMJ open 2019; (9(3)):e025307 doi:10.1136/bmjopen-2018-025307.

Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.

Berardo A, Emmanuele V, Vargas W, et al.

Journal of neurology 2020; (267(3)):823-829 doi:10.1007/s00415-019-09619-z.

Factors associated with rapid improvement in visual acuity in patients with Leber's hereditary optic neuropathy after gene therapy.

Liu HL, Yuan JJ, Zhang Y, et al.

Acta ophthalmologica 2020; (98(6)):e730-e733 doi:10.1111/aos.14379.

Assessment of the Idebenone Effect on LHON Eyes Requires High-quality Studies.

Finsterer J

Current eye research 2020; (45(11)):1451-1452 doi:10.1080/02713683.2020.1748660.

The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies.

B Domènech E, Marfany G

Antioxidants (Basel, Switzerland) 2020; (9(4)) doi:10.3390/antiox9040347.

Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus.

Mansukhani SA, Mehta DG, Renaud DL, et al.

Ophthalmology 2021; (128(4)):628-631 doi:10.1016/j.ophtha.2020.09.011.

Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation.

Newman NJ, Carelli V, Taiel M, Yu-Wai-Man P

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020; (40(4)):547-557 doi:10.1097/WNO.0000000000001045.

Idebenone: When an antioxidant is not an antioxidant.

Gueven N, Ravishankar P, Eri R, Rybalka E

Redox biology 2021; (38()):101812 doi:10.1016/j.redox.2020.101812.

Leber's hereditary optic neuropathy: course of disease in consideration of idebenone treatment and type of mutation.

Tonagel F, Wilhelm H, Richter P, Kelbsch C

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2021; (259(4)):1009-1013 doi:10.1007/s00417-020-05045-4.

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.

Rabenstein A, Catarino CB, Rampeltshammer V, et al.

Orphanet journal of rare diseases 2021; (16(1)):127 doi:10.1186/s13023-021-01724-5.

Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing.

Sun CB, Bai HX, Xu DN, et al.

Frontiers in neurology 2021; (12()):601307 doi:10.3389/fneur.2021.601307.

Changes in Retinal Perfusion in Leber's Hereditary Optic Neuropathy: An Optical Coherence Tomography-Angiography Study.

Yu J, Xu H, Huang Y, et al.

Ophthalmic research 2021; (64(5)):863-870 doi:10.1159/000518185.

Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.

Biousse V, Newman NJ, Yu-Wai-Man P, et al.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2021; (41(3)):309-315 doi:10.1097/WNO.0000000000001367.

Leber's Hereditary Optic Neuropathy in Older Individuals Because of Increased Alcohol Consumption During the COVID-19 Pandemic.

Zaslavsky K, Margolin EA

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2021; (41(3)):316-320 doi:10.1097/WNO.0000000000001333.

Mitochondrial Genetic Heterogeneity in Leber's Hereditary Optic Neuropathy: Original Study with Meta-Analysis.

Jha RK, Dawar C, Hasan Q, et al.

Genes 2021; (12(9)) doi:10.3390/genes12091300.

Variation in retinal nerve fiber layer thickness at different stages of Leber's hereditary optic neuropathy in patients with the ND4 G11778A mutation.

Tian Z, Li X, Zheng W, et al.

Seminars in ophthalmology 2022; (37(4)):496-501 doi:10.1080/08820538.2021.1986078.

Biodistribution of intravitreal lenadogene nolparvovec gene therapy in nonhuman primates.

Calkins DJ, Yu-Wai-Man P, Newman NJ, et al.

Molecular therapy. Methods & clinical development 2021; (23()):307-318 doi:10.1016/j.omtm.2021.09.013.

Atypical Leber hereditary optic neuropathy with a 34-year interval between vision loss in both eyes.

Sugiura K, Ishimaru S, Fukuda K

American journal of ophthalmology case reports 2022; (25()):101263 doi:10.1016/j.ajoc.2022.101263.

Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.

Danese A, Patergnani S, Maresca A, et al.

Cell reports 2022; (40(3)):111124 doi:10.1016/j.celrep.2022.111124.

COINCIDENCE OF IDIOPATHIC INTRACRANIAL HYPERTENSION AND LEBER HEREDITARY OPTIC NEUROPATHY. A CASE REPORT.

Myrgorodska O

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti 2022; (78(4)):197-204 doi:10.31348/2022/18.

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.

Newman NJ, Yu-Wai-Man P, Subramanian PS, et al.

Brain : a journal of neurology 2023; (146(4)):1328-1341 doi:10.1093/brain/awac421.

Solutions to a Radical Problem: Overview of Current and Future Treatment Strategies in Leber's Hereditary Opic Neuropathy.

Spiegel SJ, Sadun AA

International journal of molecular sciences 2022; (23(21)) doi:10.3390/ijms232113205.

Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.

Petrovic Pajic S, Jarc-Vidmar M, Fakin A, et al.

Frontiers in neurology 2022; (13()):1003046 doi:10.3389/fneur.2022.1003046.

[The care of patients with Leber's hereditary optic neuropathy/patient associations].

Zanlonghi X

Journal francais d'ophtalmologie 2022; (45(8S1)):S32-S39 doi:10.1016/S0181-5512(22)00448-X.

[Leber hereditary optic neuropathy: differential diagnosis].

Orssaud C

Journal francais d'ophtalmologie 2022; (45(8S1)):S9-S16 doi:10.1016/S0181-5512(22)00445-4.

The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature.

Gunawardena K, Dissanayake VHW, Chang T

Journal of medical case reports 2023; (17(1)):34 doi:10.1186/s13256-023-03763-x.

Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.

Yuan J, Zhao J, Ye C, et al.

BioMed research international 2023; (2023()):1107866 doi:10.1155/2023/1107866.

Ocular stress enhances contralateral transfer of lenadogene nolparvovec gene therapy through astrocyte networks.

McGrady NR, Boal AM, Risner ML, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2023; (31(7)):2005-2013 doi:10.1016/j.ymthe.2023.03.035.

Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.

Schworm B, Siedlecki J, Catarino C, et al.

European journal of neurology 2023; (30(8)):2525-2533 doi:10.1111/ene.15847.

Leber hereditary optic neuropathy gene therapy.

Lam BL

Current opinion in ophthalmology 2024; (35(3)):244-251 doi:10.1097/ICU.0000000000001028.

A challenging differential diagnosis - Leber's Hereditary Optic Neuropathy.

Iorga RE, Munteanu-Dănulescu RS, Danielescu C

Romanian journal of ophthalmology 2024; (68(1)):65-71 doi:10.22336/rjo.2024.13.

[Leber's hereditary optic neuropathy].

Takai Y, Yamagami A, Ishikawa H

Rinsho shinkeigaku = Clinical neurology 2024; (64(5)):326-332 doi:10.5692/clinicalneurol.cn-001924.

Leber's hereditary optic neuropathy: Update on current diagnosis and treatment.

Esmaeil A, Ali A, Behbehani R

Frontiers in ophthalmology 2022; (2()):1077395 doi:10.3389/fopht.2022.1077395.

Leber hereditary optic neuropathy in Slovenia: quality of life and costs from patient perspective.

Hawlina M, Kovač L, Breciková K, et al.

Orphanet journal of rare diseases 2024; (19(1)):318 doi:10.1186/s13023-024-03329-0.

Recognizing Leber's Hereditary Optic Neuropathy to avoid delayed diagnosis and misdiagnosis.

La Morgia C, Cascavilla ML, De Negri AM, et al.

Frontiers in neurology 2024; (15()):1466275 doi:10.3389/fneur.2024.1466275.

Ganglion Cell Complex Thickness and Visual Function in Chronic Leber Hereditary Optic Neuropathy.

Hedström J, Nilsson M, Engvall M, et al.

Investigative ophthalmology & visual science 2024; (65(12)):4 doi:10.1167/iovs.65.12.4.

Leber Hereditary Optic Neuropathy With Significant Visual Recovery: An MT-ND6 Mutation in a Malay Patient.

Ozir MA, Nordin MH, Hashim SE, et al.

Cureus 2024; (16(10)):e71210 doi:10.7759/cureus.71210.

[Brain magnetic resonance imaging features in Leber's hereditary optic neuropathy].

Murakhovskaya YK, Sheremet NL, Eliseeva DD, Bryukhov VV

Vestnik oftalmologii 2024; (140(5)):146-153 doi:10.17116/oftalma2024140051146.

Leber Hereditary Optic Neuropathy "Plus" with the m.14487 T>C Mutation as the Causality of Hemidystonia: A Case Report.

Takano F, Ueda K, Chihara N, et al.

Case reports in ophthalmology 2024; (15(1)):852-858 doi:10.1159/000542202.

Remarkable visual improvement in Leber hereditary optic neuropathy.

Takai Y, Yamagami A, Iwasa M, et al.

Japanese journal of ophthalmology 2025; (69(3)):417-424 doi:10.1007/s10384-025-01185-4.

A viewpoint about Lenadogene nolparvovec failing to meet its primary endpoint even though it permanently corrects the m.11778G>A mutation causative of LHON.

Panfoli I, Ravera S

Eye (London, England) 2025; (39(11)):2110-2111 doi:10.1038/s41433-025-03856-5.

Therapeutic benefit of idebenone in Leber hereditary optic neuropathy: a systematic review and meta-analysis.

Ribeiro PVZ, Pari Mitre L, Gauza MM, et al.

Ophthalmic genetics 2025; (46(6)):517-522 doi:10.1080/13816810.2025.2521647.

Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy.

Sergott RC, Carelli V, Newman NJ, et al.

Investigative ophthalmology & visual science 2025; (66(9)):42 doi:10.1167/iovs.66.9.42.

Leber Hereditary Optic Neuropathy and Epilepsy in a Mexican Patient.

García Gómez E, San-Juan D, Sandoval Luna L, Morales Morales MA

Cureus 2025; (17(6)):e86663 doi:10.7759/cureus.86663.

Initial Macular Ganglion Cell Changes During Conversion of Leber Hereditary Optic Neuropathy.

Hedges TR, Dombrovsky D, Onwuka O, et al.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2026; (46(2)):183-187 doi:10.1097/WNO.0000000000002384.

Evaluation of Visual and Optical Coherence Tomography Outcomes in Patients with Leber's Hereditary Optic Neuropathy Treated with Idebenone.

Iorga RE, Moraru AD, Munteanu-Dănulescu RS, et al.

Life (Basel, Switzerland) 2025; (15(8)) doi:10.3390/life15081172.

Quantitative assessment of retinal microvasculature using optical coherence tomography angiography and correlation with visual acuity in leber's hereditary optic neuropathy.

Zhao Q, Ma Y, Zhou X, et al.

International ophthalmology 2025; (45(1)):376 doi:10.1007/s10792-025-03619-x.

Whole mitochondrial genome sequencing in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA variants.

Srilekha S, Ambika S, Hemavathy N, et al.

Frontiers in neurology 2025; (16()):1584748 doi:10.3389/fneur.2025.1584748.

Nasal-Predominant Ganglion Cell-Inner Plexiform Layer Thinning Distinguishes Early-Stage Leber Hereditary Optic Neuropathy From Acute Optic Neuritis.

Takai Y, Yamagami A, Inoue K, et al.

Clinical & experimental ophthalmology 2026; doi:10.1111/ceo.70130.