Zobrazeno 1 - 10
of 4 294
pro vyhledávání: '"hereditary optic neuropathy"'
Autor:
Yi Wang, Nahui Liu, Lifan Hu, Jingsong Yang, Mengmeng Han, Tianjiao Zhou, Lei Xing, Hulin Jiang
Publikováno v:
Acta Pharmaceutica Sinica B, Vol 14, Iss 12, Pp 5435-5450 (2024)
Leber's hereditary optic neuropathy (LHON) is an ocular mitochondrial disease that involves the impairment of mitochondrial complex I, which is an important contributor to blindness among young adults across the globe. However, the disorder has no av
Externí odkaz:
https://doaj.org/article/47a7894e008f46d19434828c29febeb5
Autor:
Latifa Chkioua, Yessine Amri, Chayma Sahli, Tawfik Nasri, Mohamed Omar Miladi, Taieb Massoud, Sandrine Laradi, Mohamed Ghorbel, Hassen Ben Abdennebi
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract Background Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) rare disease due to the pathogenic variant of the NADH dehydrogenase enzyme. LHON is characterized by a sudden central vision loss due to focal degeneration o
Externí odkaz:
https://doaj.org/article/a0f20a6f241f4b069a2613f7ba1d5aaa
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Background MCDs, or mitochondrial disorders, are a major contributor to morbidity and mortality. There are few studies on the prevalence of gene mutations in pediatric MCD patients in Egypt. The objective of the current study was to determin
Externí odkaz:
https://doaj.org/article/2814b5f8e34246f1be36c457c1821d72
Autor:
Alexander M. Warwick, Howard M. Bomze, Luyu Wang, Ying Hao, Sandra S. Stinnett, Sidney M. Gospe
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Continuous exposure to environmental hypoxia (11% O2) has been shown to markedly slow the progressive degeneration of retinal ganglion cells (RGCs) in a mouse model of mitochondrial optic neuropathy with RGC-specific deletion of the key mito
Externí odkaz:
https://doaj.org/article/ea283ac2ccef4825baad27145c386c9a
Autor:
Dan Wang, Jiajia Yuan, Hong-Li Liu, Shi-lian Li, Nan Ma, Meng-lan Chen, Hua Yuan, Hong Jie, Bin Li, Tao Zhang
Publikováno v:
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background To investigate the peripapillary retinal nerve fibre layer (RNFL) thickness changes and analyse factors associated with visual recovery of G11778A Leber hereditary optic neuropathy (LHON) patients. Methods Patients diagnosed with
Externí odkaz:
https://doaj.org/article/203acd015728441e8c0b5e05c94d53c0
Autor:
María D. Esteban-Vasallo, M. Felicitas Domínguez-Berjón, Juan Pablo Chalco-Orrego, Julio González Martín–Moro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral painless subacute visual loss. Prevalence data are scarce. The aim of this study was to examine the validity of different ascertainment sourc
Externí odkaz:
https://doaj.org/article/3aa1e01644d24678b675e21cfd670776
Autor:
Alexandra Pietraszkiewicz, Azraa Ayesha, Kathleen B. Digre, Judith EA. Warner, Meagan D. Seay, Alison V. Crum, Bradley J. Katz
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102143- (2024)
Purpose: Reports of atypical cases have increased awareness that Leber's hereditary optic neuropathy (LHON) is not solely a disease of young men. Here, we present a case of a 70-year-old woman who presented with bilateral sequential loss of vision, a
Externí odkaz:
https://doaj.org/article/fa5f083ab5fe4aa0bbe662087484f967
Autor:
Lihao Jin, Dingyi Gan, Wentao He, Na Wu, Shuchenlu Xiang, Yinsheng Wei, Gilbert Eriani, Yanchun Ji, Min‐Xin Guan, Meng Wang
Publikováno v:
Advanced Science, Vol 11, Iss 41, Pp n/a-n/a (2024)
Abstract Leber's hereditary optic neuropathy (LHON), a maternally inherited ocular disease, is predominantly caused by mitochondrial DNA (mtDNA) mutations. Mitochondrial tRNA variants are hypothesized to amplify the pathogenic impact of three primary
Externí odkaz:
https://doaj.org/article/09acd8d11e7d4ff6a273c8b8f179e03b
Publikováno v:
Neurobiology of Disease, Vol 201, Iss , Pp 106681- (2024)
Lenadogene nolparvovec is a gene therapy which has been developed to treat Leber hereditary optic neuropathy (LHON) caused by a point mutation in the mitochondrial NADH dehydrogenase 4 (ND4) gene. Clinical trials have demonstrated a significant impro
Externí odkaz:
https://doaj.org/article/254ba0f4562143f28a868d12e6c4e99d
Autor:
Øystein K. Jørstad, Stine Skaar, Harald Strand, Oddveig Røsby, Ruth Therese Brokstad, Pål A. Rønning
Publikováno v:
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 513-517 (2024)
Introduction: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that typically presents with painless, central visual loss, hyperaemia of the optic nerve head, and peripapillary telangiectasias. Most LHON cases are due to one of th
Externí odkaz:
https://doaj.org/article/cfd7a363bdf34452903bb36ae887ac00