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1,460 results

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Page 1
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 …
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, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301353 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. ...Genetic counseling for LHON is complicated by the sex- and age-dependent penetrance of the primary mtDNA LHON …
CLINICAL CHARACTERISTICS: Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacut …
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 (LHON).
Shemesh A, Sood G, Blair K, Margolin E. Shemesh A, et al. 2024 Mar 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. 2024 Mar 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 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 …
[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.
For ophthalmologists, Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are of particular relevance. LHON and ADOA are diseases of the retinal ganglion cells and are caused by mitchochondrial dysfunction. LHON is based on …
For ophthalmologists, Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are of particular releva …
Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia.
Petrovic Pajic S, Fakin A, Sustar Habjan M, Jarc-Vidmar M, Hawlina M. Petrovic Pajic S, et al. J Clin Med. 2023 Oct 22;12(20):6669. doi: 10.3390/jcm12206669. J Clin Med. 2023. PMID: 37892808 Free PMC article.
BACKGROUND: Most Leber hereditary optic neuropathy (LHON) cases are bilateral and sequential; however, there are rare unilateral examples, or those in which the delay of onset of vision loss between one and the other eye is longer. ...CONCLUSIONS: This report shows three d …
BACKGROUND: Most Leber hereditary optic neuropathy (LHON) cases are bilateral and sequential; however, there are rare unilateral exam …
Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation.
Piotrowska-Nowak A, Krawczyński MR, Kosior-Jarecka E, Ambroziak AM, Korwin M, Ołdak M, Tońska K, Bartnik E. Piotrowska-Nowak A, et al. Metab Brain Dis. 2020 Dec;35(8):1317-1327. doi: 10.1007/s11011-020-00605-3. Epub 2020 Aug 1. Metab Brain Dis. 2020. PMID: 32740724 Free PMC article.
In this study, we use next generation sequencing to investigate the role of whole mtDNA variation in male Polish patients with LHON and m.11778G > A, the most frequent LHON mutation. We present a possible association between mtDNA haplogroup K and variants in its …
In this study, we use next generation sequencing to investigate the role of whole mtDNA variation in male Polish patients with LHON a …
Non-Pharmaceutical Interventions against COVID-19 Causing a Lower Trend in Age of LHON Onset.
Zheng Y, Jia X, Li S, Xiao X, Zhang Q, Wang P. Zheng Y, et al. Genes (Basel). 2023 Jun 12;14(6):1253. doi: 10.3390/genes14061253. Genes (Basel). 2023. PMID: 37372433 Free PMC article.
Leber hereditary optic neuropathy (LHON) is a monogenic but multifactorial disease vulnerable to environmental triggers. Little is known about how LHON onset changed during the COVID-19 pandemic and how non-pharmaceutical interventions (NPHIs) against COVID-19 impac …
Leber hereditary optic neuropathy (LHON) is a monogenic but multifactorial disease vulnerable to environmental triggers. Little is kn …
1,460 results