Zobrazeno 1 - 10
of 1 003
pro vyhledávání: '"Leber Hereditary Optic Neuropathy"'
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
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
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
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:
Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that
Externí odkaz:
https://doaj.org/article/6e3b9de78c4e4071ad94d231642e4ed6
Autor:
Cinzia Bocca, Judith Kouassi-Nzoughet, Juan Manuel Chao de la Barca, Dominique Bonneau, Christophe Verny, Philippe Gohier, Christophe Orssaud, Pascal Reynier
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/4f745d54585a4808a18b008b47ac493d
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract The differential diagnosis for optic atrophy can be challenging and requires expensive, time-consuming ancillary testing to determine the cause. While Leber's hereditary optic neuropathy (LHON) and optic neuritis (ON) are both clinically sig
Externí odkaz:
https://doaj.org/article/6bb0114f6beb4ecab06de6602c762e0b
Publikováno v:
International Journal of Ophthalmology, Vol 16, Iss 6, Pp 928-932 (2023)
AIM: To evaluate the functional and structural changes of photoreceptors in patients and asymptomatic carriers with Leber hereditary optic neuropathy (LHON) using full-field electroretinography (FERG) and optical coherence tomography (OCT). METHODS:
Externí odkaz:
https://doaj.org/article/bec0d4eef40e4d87aa0ddd7a02298745