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Page 1
Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Chinnery PF. Yu-Wai-Man P, et al. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301353 Free Books & Documents. Review.
A female (affected or unaffected) with a primary LHON-causing mtDNA variant transmits the variant to all of her offspring. In approximately 60% of families, a history of visual loss affecting maternal relatives is present. Genetic counseling for LHON is complicated …
A female (affected or unaffected) with a primary LHON-causing mtDNA variant transmits the variant to all of her offspring. In approxi …
Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P. Carelli V, et al. Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. Handb Clin Neurol. 2023. PMID: 36813316 Review.
LHON and DOA are both characterized by selective neurodegeneration of retinal ganglion cells (RGCs) triggered by mitochondrial dysfunction. ...LHON is a subacute, rapid, severe loss of central vision involving both eyes within weeks or months, with age of onset betw
LHON and DOA are both characterized by selective neurodegeneration of retinal ganglion cells (RGCs) triggered by mitochondrial dysfun
LHON and other optic nerve atrophies: the mitochondrial connection.
Howell N. Howell N. Dev Ophthalmol. 2003;37:94-108. doi: 10.1159/000072041. Dev Ophthalmol. 2003. PMID: 12876832 Review.
The clinical, biochemical and genetic features of Leber's hereditary optic neuropathy (LHON) are reviewed. The etiology of LHON is complex, but the primary risk factor is a mutation in one of the seven mitochondrial genes that encode subunits of respiratory chain co …
The clinical, biochemical and genetic features of Leber's hereditary optic neuropathy (LHON) are reviewed. The etiology of LHON
Leber Hereditary Optic Neuropathy: Review of Treatment and Management.
Hage R, Vignal-Clermont C. Hage R, et al. Front Neurol. 2021 May 26;12:651639. doi: 10.3389/fneur.2021.651639. eCollection 2021. Front Neurol. 2021. PMID: 34122299 Free PMC article. Review.
Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that specifically targets the retinal ganglion cells by reducing their ability to produce enough energy to sustain. The mutations of the mitochondrial DNA that cause LHON are si …
Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that specifically targets the retinal gangli …
Leber Hereditary Optic Neuropathy (LHON).
Shemesh A, Sood G, Blair K, Margolin E. Shemesh A, et al. 2024 Mar 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2024 Mar 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 29494105 Free Books & Documents.
Leber hereditary optic neuropathy (LHON) is a rare mitochondrial disorder primarily affecting young males, causing sequential visual loss due to optic nerve degeneration. ...Although fundus examinations aid diagnosis, their absence doesn't rule out LHON. Recent adva …
Leber hereditary optic neuropathy (LHON) is a rare mitochondrial disorder primarily affecting young males, causing sequential visual …
Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India.
Gowri P, Sathish P, Mahesh Kumar S, Sundaresan P. Gowri P, et al. Gene. 2022 Apr 20;819:146202. doi: 10.1016/j.gene.2022.146202. Epub 2022 Jan 30. Gene. 2022. PMID: 35104579
BACKGROUND: Leber's Hereditary Optic Neuropathy (LHON) is a rare mitochondriopathy causing retinal ganglion cell degeneration resulting in central vision loss. ...MT-ND4, MT-ND5, and MT-ND1 serve as the hotspot genes in this cohort. The presence of LHON associated m …
BACKGROUND: Leber's Hereditary Optic Neuropathy (LHON) is a rare mitochondriopathy causing retinal ganglion cell degeneration resulti …
Identification of the variants in PARL, the nuclear modifier gene, responsible for the expression of LHON patients in Thailand.
Istikharah R, Tun AW, Kaewsutthi S, Aryal P, Kunhapan B, Katanyoo W, Chuenkongkaew W, Lertrit P. Istikharah R, et al. Exp Eye Res. 2013 Nov;116:55-7. doi: 10.1016/j.exer.2013.08.007. Epub 2013 Aug 22. Exp Eye Res. 2013. PMID: 23973714 Review.
The present study explored variation in the PARL gene as one of the potential nuclear modifiers in the pathogenesis of Leber hereditary optic neuropathy (LHON). Ten exons, their franking introns and 3' UTR of the PARL gene were analysed. Seventeen SNPs detected were invest …
The present study explored variation in the PARL gene as one of the potential nuclear modifiers in the pathogenesis of Leber hereditary opti …
LHON: Mitochondrial Mutations and More.
Kirches E. Kirches E. Curr Genomics. 2011 Mar;12(1):44-54. doi: 10.2174/138920211794520150. Curr Genomics. 2011. PMID: 21886454 Free PMC article.
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder leading to severe visual impairment or even blindness by death of retinal ganglion cells (RGCs). ...It is assumed that other genetic and environmental factors are needed in addition to the 'primary L
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder leading to severe visual impairment or even blindness by death …
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.
Baglivo M, Nasca A, Lamantea E, Vinci S, Spagnolo M, Marchet S, Prokisch H, Catania A, Lamperti C, Ghezzi D. Baglivo M, et al. Int J Mol Sci. 2023 Aug 8;24(16):12580. doi: 10.3390/ijms241612580. Int J Mol Sci. 2023. PMID: 37628761 Free PMC article.
Leber's hereditary optic neuropathy (LHON) is a disease that affects the optical nerve, causing visual loss. ...Idebenone is widely used to treat LHON patients, but only some of them are responders to treatment. ...
Leber's hereditary optic neuropathy (LHON) is a disease that affects the optical nerve, causing visual loss. ...Idebenone is widely u …
[Hereditary Optic Neuropathies].
Rüther K. Rüther K. Klin Monbl Augenheilkd. 2018 Jun;235(6):747-763. doi: 10.1055/a-0583-6290. Epub 2018 Feb 28. Klin Monbl Augenheilkd. 2018. PMID: 29490390 Review. German.
LHON is based on mutations of the mitochondrial, ADOA of the nuclear DNA. LHON is a disease that usually leads to severe visual impairment (visual acuity < 0.1). ...
LHON is based on mutations of the mitochondrial, ADOA of the nuclear DNA. LHON is a disease that usually leads to severe visua
1,316 results