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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.
Mitochondrial optic neuropathies have a leading role in the field of mitochondrial medicine ever since 1988, when the first mutation in mitochondrial DNA was associated with Leber's hereditary optic neuropathy (LHON). ...All forms of mitochondrial optic …
Mitochondrial optic neuropathies have a leading role in the field of mitochondrial medicine ever since 1988, when the first mutation …
Childhood-onset Leber hereditary optic neuropathy.
Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P. Majander A, et al. Br J Ophthalmol. 2017 Nov;101(11):1505-1509. doi: 10.1136/bjophthalmol-2016-310072. Epub 2017 Mar 17. Br J Ophthalmol. 2017. PMID: 28314831 Free article.
BACKGROUND: The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. ...The clinical presentation can be insidious and LHON should be considered in the differential diagnosis when faced with a child with unexplained subnormal vis …
BACKGROUND: The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. ...The clinical presentatio …
Ophthalmic manifestations of MEPAN syndrome.
Gupta PR, Gospe SM , III. Gupta PR, et al. Ophthalmic Genet. 2023 Oct;44(5):469-474. doi: 10.1080/13816810.2022.2135112. Epub 2022 Oct 19. Ophthalmic Genet. 2023. PMID: 36262091
The syndrome is characterized by dystonia in early childhood, basal ganglia signal abnormalities on MRI, and subsequent optic atrophy, with relative sparing of cognition. We characterize the ophthalmic manifestations observed in a patient with MEPAN syndrome, as a detailed …
The syndrome is characterized by dystonia in early childhood, basal ganglia signal abnormalities on MRI, and subsequent optic atrophy …
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). ...
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defi …
Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.
Lin CW, Huang CW, Luo AC, Chou YT, Huang YS, Chen PL, Chen TC. Lin CW, et al. Genes (Basel). 2021 Aug 31;12(9):1378. doi: 10.3390/genes12091378. Genes (Basel). 2021. PMID: 34573359 Free PMC article.
Hereditary optic neuropathy (HON) is a group of genetically heterogeneous diseases that cause optic nerve atrophy and lead to substantial visual impairment. ...In total, 57 patients from 48 families were recruited, with 6 patients diagnosed as having Leber …
Hereditary optic neuropathy (HON) is a group of genetically heterogeneous diseases that cause optic nerve atrophy and l …
Endocrinology and metabolism 2012.
Root AW. Root AW. Curr Opin Pediatr. 2012 Aug;24(4):494-7. doi: 10.1097/MOP.0b013e3283557ceb. Curr Opin Pediatr. 2012. PMID: 22705996 No abstract available.
Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights.
Barboni P, La Morgia C, Cascavilla ML, Hong EH, Battista M, Majander A, Caporali L, Starace V, Amore G, Renzo AD, Carbonelli M, Nucci P, Jurkute N, Chen BS, Panebianco R, De Negri AM, Sadun F, Parisi V, Bandello F, Sadun AA, Carelli V, Yu-Wai-Man P. Barboni P, et al. Am J Ophthalmol. 2023 May;249:99-107. doi: 10.1016/j.ajo.2022.12.014. Epub 2022 Dec 18. Am J Ophthalmol. 2023. PMID: 36543315
PURPOSE: To investigate the clinical and molecular genetic features of childhood-onset Leber hereditary optic neuropathy (LHON) to gain a better understanding of the factors influencing the visual outcome in this atypical form of the disease. ...
PURPOSE: To investigate the clinical and molecular genetic features of childhood-onset Leber hereditary optic neuropathy (LHON …
[Hereditary optic neuropathies in pediatric ophthalmology].
Orssaud C, Robert MP, Bremond Gignac D. Orssaud C, et al. J Fr Ophtalmol. 2018 May;41(5):402-406. doi: 10.1016/j.jfo.2017.11.017. Epub 2018 May 17. J Fr Ophtalmol. 2018. PMID: 29779933 French.
INTRODUCTION: Hereditary optic neuropathies (HON) often begin in adulthood. However, some of them can have an early onset. ...An etiology was not found in 8 patients. Of the remaining 36 patients, 12 had Leber's hereditary optic neuropathy (LHON), 11 h …
INTRODUCTION: Hereditary optic neuropathies (HON) often begin in adulthood. However, some of them can have an early onset. ... …
X-recessive angiopathic opticopathy.
Bastiaensen LA, Vandoninck JJ. Bastiaensen LA, et al. Doc Ophthalmol. 1982 Jan 29;52(3-4):227-39. doi: 10.1007/BF01675853. Doc Ophthalmol. 1982. PMID: 7067594
A familial optic atrophy with X-recessive heredity, distinct from Leber's optic atrophy (LOA), is described. ...The differential diagnosis from some other hereditary, especially X-recessive, optic atrophies is discussed....
A familial optic atrophy with X-recessive heredity, distinct from Leber's optic atrophy (LOA), is described. ...The differenti …
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.
Zibold J, von Livonius B, Kolarova H, Rudolph G, Priglinger CS, Klopstock T, Catarino CB. Zibold J, et al. Orphanet J Rare Dis. 2022 Aug 9;17(1):310. doi: 10.1186/s13023-022-02453-z. Orphanet J Rare Dis. 2022. PMID: 35945620 Free PMC article.
BACKGROUND: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute or subacute severe bilateral central vision loss. Vitamin B12 deficiency is also a known cause of optic neuropathy through mitochondr …
BACKGROUND: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute …
237 results