{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T21:30:05Z","timestamp":1784842205269,"version":"3.55.0"},"reference-count":50,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T00:00:00Z","timestamp":1753228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>The aim of this paper is to present our experience with the diagnosis and management of nine patients diagnosed with Leber\u2019s hereditay optic neuropathy. Materials and methods: We conducted a prospective, observational study that included nine patients treated with idebenone, followed for a period of 18 months. Results: Our findings suggest that the impact of treatment varies significantly depending on the disease phase. In the acute phase, visual acuity deteriorated from 0.67 logMAR at onset to 0.97 logMAR at 3 months, followed by a slight improvement to 0.88 logMAR at 9 months. In the chronic phase, average values decreased progressively from 1.44 logMAR at onset to 1.26 logMAR at 12 and 18 months. We also observed a consistent treatment benefit over time in eyes harbouring the m.11778 G &gt; A mutation. Although the most powerful predictor of visual outcome remains the mtDNA genotype, young age at onset is correlated with a better prognosis. In the acute phase, more cases of a clinically relevant benefit were observed than expected (33.33% versus 22.22% expected), and fewer clinically relevant worsening cases were observed (0% versus 11.11% expected). Regarding OCT measurement, our study highlighted a significant difference in peripapillary retinal nerve fiber layer thickness between the initial evaluation and the 6-month follow-up (100.83 \u00b5m \u00b1 30.2 at baseline versus 96.7 \u00b5m \u00b1 24.8 at 6 months). Conclusions: Our paper demonstrates the benefit of idebenone treatment in improving visual acuity in patients with Leber hereditary optic neuropathy. We highlighted the importance of long-term treatment, emphasizing that extended administration is key to achieving favorable outcomes.<\/jats:p>","DOI":"10.3390\/life15081172","type":"journal-article","created":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T16:04:51Z","timestamp":1753286691000},"page":"1172","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Evaluation of Visual and Optical Coherence Tomography Outcomes in Patients with Leber\u2019s Hereditary Optic Neuropathy Treated with Idebenone"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-1149","authenticated-orcid":false,"given":"Raluca Eugenia","family":"Iorga","sequence":"first","affiliation":[{"name":"Department of Surgery II, Discipline of Ophthalmology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, Strada Universitatii No. 16, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6244-4438","authenticated-orcid":false,"given":"Andreea Dana","family":"Moraru","sequence":"additional","affiliation":[{"name":"Department of Surgery II, Discipline of Ophthalmology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, Strada Universitatii No. 16, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u0103zvana Sorina","family":"Munteanu-D\u0103nulescu","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, \u201cL. Pasteur\u201d Clinical Hospital, 28630 Le Coudray, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6590-1889","authenticated-orcid":false,"given":"Delia","family":"Urdea","sequence":"additional","affiliation":[{"name":"Discipline of Alergology, Doctoral School \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, Strada Universitatii No. 16, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1639-2921","authenticated-orcid":false,"given":"Ciprian","family":"Danielescu","sequence":"additional","affiliation":[{"name":"Department of Surgery II, Discipline of Ophthalmology, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, Strada Universitatii No. 16, 700115 Ia\u0219i, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.preteyeres.2010.11.002","article-title":"Mitochondrial optic neuropathies\u2014Disease mechanisms and therapeutic strategies","volume":"30","author":"Griffiths","year":"2011","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"461","DOI":"10.5301\/ejo.5000055","article-title":"Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe","volume":"22","author":"Mascialino","year":"2012","journal-title":"Eur. J. Ophthalmol."},{"key":"ref_3","unstructured":"(2024, June 01). European Commission\u2014Health\u2014Rare Diseases. Available online: https:\/\/research-and-innovation.ec.europa.eu\/research-area\/health\/rare-diseases_en."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/BF01694557","article-title":"Ueber heredit\u00e4re und congenital-angelegte Sehnervenleiden","volume":"17","author":"Leber","year":"1871","journal-title":"Graefe\u2019s Arch. Clin. Exp. Ophthalmol."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Hooshiar Kashani, B., Reynier, P., La Morgia, C., Valentino, M.L., Liguori, R., and Pizza, F. (2012). Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber\u2019s hereditary optic neuropathy. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0042242"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1042\/BST20180134","article-title":"Towards a Therapy for Mitochondrial Disease: An Update","volume":"46","author":"Garone","year":"2018","journal-title":"Biochem. Soc. Trans."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"7608","DOI":"10.1167\/iovs.12-10452","article-title":"Mathematically modeling the involvement of axons in Leber\u2019s hereditary optic neuropathy","volume":"53","author":"Pan","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ajo.2022.11.004","article-title":"Visual Outcomes and Optical Coherence Tomography Biomarkers of Vision Improvement in Patients with Leber Hereditary Optic Neuropathy Treated with Idebenone","volume":"247","author":"Borrelli","year":"2023","journal-title":"Am. J. Ophthalmol."},{"key":"ref_9","first-page":"6921","article-title":"Targeting estrogen receptor \u03b2 as preventive therapeutic strategy for Leber\u2019s hereditary optic neuropathy","volume":"24","author":"Pisano","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1016\/j.jfo.2013.05.007","article-title":"Hereditary optic neuropathies: From clinical signs to diagnosis","volume":"36","author":"Meunier","year":"2013","journal-title":"J. Fr. Ophtalmol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1111\/ceo.12086","article-title":"Mitochondrial optic neuropathies: Our travels from bench to bedside and back again","volume":"41","author":"Sadun","year":"2013","journal-title":"Clin. Exp. Ophthalmol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/eye.2014.37","article-title":"Treatment strategies for inherited optic neuropathies: Past, present and future","volume":"28","author":"Votruba","year":"2014","journal-title":"Eye"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1097\/WNO.0000000000000570","article-title":"International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy","volume":"37","author":"Carelli","year":"2017","journal-title":"J. Neuroophthalmol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"44","DOI":"10.2174\/138920211794520150","article-title":"LHON: Mitochondrial Mutations and More","volume":"12","author":"Kirches","year":"2011","journal-title":"Curr. Genom."},{"key":"ref_15","first-page":"1165","article-title":"Leber hereditary optic neuropathy:current perspectives","volume":"9","author":"Meyerson","year":"2015","journal-title":"Clin. Ophthalmol."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Zhang, A.M., Jia, X., Bi, R., Salas, A., Li, S., Xiao, X., Wang, P., Guo, X., Kong, Q.P., and Zhang, Q. (2011). Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0027750"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"e17","DOI":"10.1093\/brain\/awv339","article-title":"Parsing the differences in affected with LHON: Genetic versus environmental triggers of disease conversion","volume":"139","author":"Carelli","year":"2016","journal-title":"Brain"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1016\/j.cell.2018.09.014","article-title":"The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development","volume":"175","author":"Tebbenkamp","year":"2018","journal-title":"Cell"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1136\/jmedgenet-2021-108235","article-title":"DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber\u2019s hereditary optic neuropathy and optic atrophy","volume":"59","author":"Kieninger","year":"2022","journal-title":"J. Med. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"104821","DOI":"10.1016\/j.ejmg.2023.104821","article-title":"Autosomal recessive Leber\u2019s hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene","volume":"66","author":"Mauring","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1172\/JCI138267","article-title":"Impaired complex I repair causes recessive Leber\u2019s hereditary optic neuropathy","volume":"131","author":"Stenton","year":"2021","journal-title":"J. Clin. Investig."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1097\/WNO.0000000000001023","article-title":"Real-World Clinical Experience with Idebenone in the Treatment of Leber Hereditary Optic Neuropathy","volume":"40","author":"Catarino","year":"2020","journal-title":"J. Neuroophthalmol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"4609","DOI":"10.1523\/JNEUROSCI.1632-17.2020","article-title":"Idebenone has distinct effects on mitochondrial respiration in cortical astrocytes compared to cortical neurons due to differential nqo1 activity","volume":"40","author":"Jaber","year":"2020","journal-title":"J. Neurosci."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.mito.2017.01.004","article-title":"Evaluating the therapeutic potential of idebenone and related quinone analogues in leber hereditary optic neuropathy","volume":"36","author":"Soiferman","year":"2017","journal-title":"Mitochondrion"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2677","DOI":"10.1093\/brain\/awr170","article-title":"A randomized placebo-controlled trial of idebenone in Leber\u2019s hereditary optic neuropathy","volume":"134","author":"Klopstock","year":"2011","journal-title":"Brain"},{"key":"ref_26","first-page":"433","article-title":"Long-term efficacy and safety of idebenone in patients with LHON in the subacute\/dynamic phase: Results from the LEROS study","volume":"63","author":"Klopstock","year":"2022","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1007\/s11910-022-01246-y","article-title":"Developments in the Treatment of Leber Hereditary Optic Neuropathy","volume":"22","author":"Chen","year":"2022","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"e188","DOI":"10.1093\/brain\/awr180","article-title":"Idebenone treatment in Leber\u2019s hereditary optic neuropathy","volume":"134","author":"Carelli","year":"2011","journal-title":"Brain"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"111124","DOI":"10.1016\/j.celrep.2022.111124","article-title":"Pathological mitophagy disrupts mitochondrial homeostasis in Leber\u2019s hereditary optic neuropathy","volume":"40","author":"Danese","year":"2022","journal-title":"Cell Rep."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.lfs.2018.07.001","article-title":"Hesperetin reduces myelin damage and ameliorates glial activation in lysolecithin-induced focal demyelination model of rat optic chiasm","volume":"207","author":"Baradaran","year":"2018","journal-title":"Life Sci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1038\/s41433-021-01535-9","article-title":"Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study","volume":"36","author":"Newman","year":"2022","journal-title":"Eye"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.ajo.2003.08.010","article-title":"Ophthalmologic findings in a large pedigree of 11778\/haplogroup J Leber hereditary optic neuropathy","volume":"137","author":"Sadun","year":"2004","journal-title":"Am. J. Ophthalmol."},{"key":"ref_33","first-page":"334","article-title":"Pan-American mDNA haplogroups in Chilean patients with Leber\u2019s hereditary optic neuropathy","volume":"20","author":"Romero","year":"2014","journal-title":"Mol. Vis."},{"key":"ref_34","unstructured":"Silva, M., Ll\u00f2ria, X., Catarino, C., and Klopstock, T. (2019, January 16\u201321). Natural history of Leber\u2019s hereditary optic neuropathy (LHON): Findings from a large patient cohort. Proceedings of the 45th Annual Meeting of the North American Neuro-Ophthalmology Society, Las Vegas, NV, USA."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1097\/WNO.0000000000000830","article-title":"Clinical and optic disc characteristics of patients showing visual recovery in Leber hereditary optic neuropathy","volume":"40","author":"Moon","year":"2020","journal-title":"J. Neuroophthalmol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1097\/WNO.0000000000001045","article-title":"Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation","volume":"40","author":"Newman","year":"2020","journal-title":"J. Neuroophthalmol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"101437","DOI":"10.1016\/j.xcrm.2024.101437","article-title":"Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial","volume":"5","author":"Carelli","year":"2024","journal-title":"Cell Rep. Med."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Pojda-Wilczek, D., W\u00f3jcik, J., Kmak, B., and Krawczynski, M.R. (2022). Phenotypic variation of autosomal recessive leber hereditary optic neuropathy (arLHON) in one family. Diagnostics, 12.","DOI":"10.3390\/diagnostics12112701"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"e147734","DOI":"10.1172\/JCI147734","article-title":"DNAJC30 biallelic mutations extend mitochondrial complex I deficient phenotypes to include recessive Leber\u2019s hereditary optic neuropathy","volume":"131","author":"Wiggs","year":"2021","journal-title":"J. Clin. Investig."},{"key":"ref_40","first-page":"OD31","article-title":"Long-term safety of idebenone in patients with Leber hereditary optic neuropathy: Results from the PAROS study","volume":"65","author":"Pemp","year":"2024","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Quigley, C., Stephenson, K.A.J., Kenna, P., and Cassidy, L. (2023). Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24021068"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1136\/bjophthalmol-2015-307326","article-title":"Macular nerve fibre and ganglion cell layer changes in acute Leber\u2019s hereditary optic neuropathy","volume":"100","author":"Balducci","year":"2015","journal-title":"Br. J. Ophthalmol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.mito.2023.04.002","article-title":"PhNR and peripapillary RNFL changes in Leber hereditary optic neuropathy with m.G11778A mutation","volume":"70","author":"Miao","year":"2023","journal-title":"Mitochondrion"},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Wang, M., Guo, H., Li, S., Wang, G., Long, Y., Meng, X., Liu, B., Liu, Y., Robson, A.G., and Yin, Z.Q. (2020). Electrophysiological Structural Changes in Chinese Patients with LHON. J. Ophthalmol., 4734276.","DOI":"10.1155\/2020\/4734276"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"107","DOI":"10.3109\/01658107.2016.1173709","article-title":"The Optical Coherence Tomographic Profile of Leber Hereditary Optic Neuropathy","volume":"2","author":"Hedges","year":"2016","journal-title":"Neuroophthalmology"},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Botelho, G.I.S., Salom\u00e3o, S.R., Tengan, C.H., Karanjia, R., Moura, F.V., Rocha, D.M., Silva, P.B.E.D., Fernandes, A.G., Watanabe, S.E.S., and Sacai, P.Y. (2020). Impaired ganglion cell function objectively assessed by the photopic negative response in affected and asymptomatic members from brazilian families with leber\u2019s hereditary optic neuropathy. Front. Neurol., 11.","DOI":"10.3389\/fneur.2020.628014"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.1016\/j.ophtha.2013.05.031","article-title":"Retinal ganglion cell analysis in Leber\u2019s hereditary optic neuropathy","volume":"120","author":"Akiyama","year":"2013","journal-title":"Ophthalmology"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.ophtha.2009.07.026","article-title":"Natural history of Leber\u2019s hereditary optic neuropathy: Longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography","volume":"117","author":"Barboni","year":"2010","journal-title":"Ophthalmology"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1080\/08820538.2021.1986078","article-title":"Variation in retinal nerve fiber layer thickness at different stages of Leber\u2019s hereditary optic neuropathy in patients with the ND4 G11778A mutation","volume":"37","author":"Tian","year":"2022","journal-title":"Semin. Ophthalmol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ophtha.2004.09.033","article-title":"Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber\u2019s hereditary optic neuropathy mutations","volume":"112","author":"Savini","year":"2005","journal-title":"Ophthalmology"}],"container-title":["Life"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-1729\/15\/8\/1172\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:14:57Z","timestamp":1760033697000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-1729\/15\/8\/1172"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,23]]},"references-count":50,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["life15081172"],"URL":"https:\/\/doi.org\/10.3390\/life15081172","relation":{},"ISSN":["2075-1729"],"issn-type":[{"value":"2075-1729","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,23]]}}}