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2020 2
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Mitochondrial Disorders.
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H. Klopstock T, et al. Dtsch Arztebl Int. 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. Dtsch Arztebl Int. 2021. PMID: 34158150 Free PMC article. Review.
The only disease-modifying treatment that has been approved to date is idebenone for the treatment of Leber hereditary optic neuropathy. Intravitreal gene therapy has also been developed for the treatment of this disease; its approval by the European M …
The only disease-modifying treatment that has been approved to date is idebenone for the treatment of Leber hereditary opti …
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group. Yu-Wai-Man P, et al. Cell Rep Med. 2024 Mar 19;5(3):101437. doi: 10.1016/j.xcrm.2024.101437. Epub 2024 Feb 29. Cell Rep Med. 2024. PMID: 38428428 Free PMC article. Clinical Trial.
Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to rapid and severe bilateral vision loss. ...
Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to rapid and severe bilateral vision …
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Newman NJ, Biousse V, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Degli Esposti S, La Morgia C, Priglinger C, Karanja R, Taiel M, Sahel JA; LHON Study Group. Yu-Wai-Man P, et al. JAMA Ophthalmol. 2025 Feb 1;143(2):99-108. doi: 10.1001/jamaophthalmol.2024.5375. JAMA Ophthalmol. 2025. PMID: 39699886 Free PMC article. Clinical Trial.
IMPORTANCE: Limited studies have assessed the long-term benefit/risk of gene therapy for Leber hereditary optic neuropathy (LHON). OBJECTIVE: To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-ND4 gene va …
IMPORTANCE: Limited studies have assessed the long-term benefit/risk of gene therapy for Leber hereditary optic neur …
Vitamin A treatment restores vision failures arising from Leber's hereditary optic neuropathy-linked mtDNA mutation.
Ai C, Li H, Wang C, Ji Y, Wallace DC, Qian J, Zhu Y, Guan MX. Ai C, et al. JCI Insight. 2025 Mar 4;10(8):e188962. doi: 10.1172/jci.insight.188962. eCollection 2025 Apr 22. JCI Insight. 2025. PMID: 40036074 Free PMC article.
Leber hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy due to mitochondrial DNA (mtDNA) mutations. ...
Leber hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy due to mitochondrial DNA (m …
Leber hereditary optic neuropathy gene therapy.
Lam BL. Lam BL. Curr Opin Ophthalmol. 2024 May 1;35(3):244-251. doi: 10.1097/ICU.0000000000001028. Epub 2023 Dec 20. Curr Opin Ophthalmol. 2024. PMID: 38117686 Free PMC article. Review.
PURPOSE OF REVIEW: To discuss relevant clinical outcomes, challenges, and future opportunities of gene therapy in Leber hereditary optic neuropathy (LHON). RECENT FINDINGS: Results of G11778A LHON Phase 3 randomized clinical trials with unilateral intr …
PURPOSE OF REVIEW: To discuss relevant clinical outcomes, challenges, and future opportunities of gene therapy in Leber hereditary …
Gene therapy for Leber hereditary optic neuropathy.
Battista M, Carelli V, Bottazzi L, Bandello F, Cascavilla ML, Barboni P. Battista M, et al. Expert Opin Biol Ther. 2024 Jun;24(6):521-528. doi: 10.1080/14712598.2024.2359015. Epub 2024 Jun 28. Expert Opin Biol Ther. 2024. PMID: 38939999 Review.
INTRODUCTION: Leber hereditary optic neuropathy (LHON) is among the most frequent inherited mitochondrial disease, causing a severe visual impairment, mostly in young-adult males. ...
INTRODUCTION: Leber hereditary optic neuropathy (LHON) is among the most frequent inherited mitochondrial diseas …
Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.
D'Esposito F, Zeppieri M, Cordeiro MF, Capobianco M, Avitabile A, Gagliano G, Musa M, Barboni P, Gagliano C. D'Esposito F, et al. Genes (Basel). 2024 Nov 29;15(12):1559. doi: 10.3390/genes15121559. Genes (Basel). 2024. PMID: 39766826 Free PMC article.
Disorders such as dominant optic atrophy (DOA), Leber hereditary optic neuropathy (LHON), and glaucoma demonstrate intricate genetic foundations and varied phenotypic manifestations. ...
Disorders such as dominant optic atrophy (DOA), Leber hereditary optic neuropathy (LHON), and glaucoma demonstra …
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Rocatcher A, Desquiret-Dumas V, Charif M, Ferré M, Gohier P, Mirebeau-Prunier D, Verny C, Milea D, Lenaers G; HON Collaborators Group; Bonneau D, Reynier P, Amati-Bonneau P. Rocatcher A, et al. Brain. 2023 Feb 13;146(2):455-460. doi: 10.1093/brain/awac395. Brain. 2023. PMID: 36317462
As part of our diagnostic activity, we retrospectively evaluated the combination of Leber hereditary optic neuropathy mutations testing with the exon sequencing of 87 nuclear genes on 2186 patients referred for suspected hereditary optic neuropathies. …
As part of our diagnostic activity, we retrospectively evaluated the combination of Leber hereditary optic neuropath …
Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects.
Chow-Wing-Bom HT, Callaghan MF, Wang J, Wei S, Dick F, Yu-Wai-Man P, Dekker TM. Chow-Wing-Bom HT, et al. Neuroimage Clin. 2022;36:103240. doi: 10.1016/j.nicl.2022.103240. Epub 2022 Oct 25. Neuroimage Clin. 2022. PMID: 36510411 Free PMC article. Review.
Leber Hereditary Optic Neuropathy (LHON) is an inherited mitochondrial retinal disease that causes the degeneration of retinal ganglion cells and leads to drastic loss of visual function. ...
Leber Hereditary Optic Neuropathy (LHON) is an inherited mitochondrial retinal disease that causes the degenerat …
Leber hereditary optic neuropathy-new insights and old challenges.
Sundaramurthy S, SelvaKumar A, Ching J, Dharani V, Sarangapani S, Yu-Wai-Man P. Sundaramurthy S, et al. Graefes Arch Clin Exp Ophthalmol. 2021 Sep;259(9):2461-2472. doi: 10.1007/s00417-020-04993-1. Epub 2020 Nov 13. Graefes Arch Clin Exp Ophthalmol. 2021. PMID: 33185731 Review.
Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder with the majority of patients harboring one of three primary mtDNA point mutations, namely, m.3460G>A (MTND1), m.11778G>A (MTND4), and m.14484T …
Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder with the …
151 results