Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1969 1
1980 1
1983 1
1989 1
1992 1
1993 1
1994 2
1995 2
1996 1
1997 2
1998 3
1999 3
2001 9
2002 10
2003 8
2004 10
2005 6
2006 8
2007 5
2008 6
2009 7
2010 7
2011 5
2012 10
2013 14
2014 6
2015 5
2016 12
2017 20
2018 11
2019 10
2020 9
2021 9
2022 14
2023 6
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

210 results

Results by year

Filters applied: . Clear all
Page 1
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which are the most common clinical entities. Both can present as isolated or virtually exclusive conditions, or as part of more complex, frequentl …
Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which …
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 o …
Mitochondrial optic neuropathies have a leading role in the field of mitochondrial medicine ever since 1988, when the first mutation …
Mitochondrial Disorders.
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H. Klopstock T, et al. Dtsch Arztebl Int. 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. Dtsch Arztebl Int. 2021. PMID: 34158150 Free PMC article. Review.
The only disease-modifying treatment that has been approved to date is idebenone for the treatment of Leber hereditary optic neuropathy. Intravitreal gene therapy has also been developed for the treatment of this disease; its approval by the European Medicine …
The only disease-modifying treatment that has been approved to date is idebenone for the treatment of Leber hereditary opti …
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Chen BS, Yu-Wai-Man P, Newman NJ. Chen BS, et al. Curr Neurol Neurosci Rep. 2022 Dec;22(12):881-892. doi: 10.1007/s11910-022-01246-y. Epub 2022 Nov 21. Curr Neurol Neurosci Rep. 2022. PMID: 36414808 Free PMC article. Review.
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the therapeutic delivery pipeline, exploring the mechanisms of action and evidence for these therapeutic approaches. ...
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the …
Visual impairment.
Ellenberger C. Ellenberger C. Handb Clin Neurol. 2016;136:887-903. doi: 10.1016/B978-0-444-53486-6.00045-4. Handb Clin Neurol. 2016. PMID: 27430448 Review.
This chapter can guide the use of imaging in the evaluation of common visual syndromes: transient visual disturbance, including migraine and amaurosis fugax; acute optic neuropathy complicating multiple sclerosis, neuromyelitis optica spectrum disorder, Leber her …
This chapter can guide the use of imaging in the evaluation of common visual syndromes: transient visual disturbance, including migraine and …
[Mitochondrial diseases].
Radelfahr F, Klopstock T. Radelfahr F, et al. Nervenarzt. 2019 Feb;90(2):121-130. doi: 10.1007/s00115-018-0666-2. Nervenarzt. 2019. PMID: 30643957 Review. German.
The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidos …
The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary …
Mitochondrial disorders and the eye.
Kisilevsky E, Freund P, Margolin E. Kisilevsky E, et al. Surv Ophthalmol. 2020 May-Jun;65(3):294-311. doi: 10.1016/j.survophthal.2019.11.001. Epub 2019 Nov 27. Surv Ophthalmol. 2020. PMID: 31783046 Review.
These disorders can affect all parts of the visual pathway (crystalline lens, extraocular muscles, retina, optic nerve, and retrochiasm). After the introduction reviewing mitochondrial structure and function, each disorder is reviewed in detail, including approaches to its …
These disorders can affect all parts of the visual pathway (crystalline lens, extraocular muscles, retina, optic nerve, and retrochia …
Hereditary Retinal Dystrophy.
Hohman TC. Hohman TC. Handb Exp Pharmacol. 2017;242:337-367. doi: 10.1007/164_2016_91. Handb Exp Pharmacol. 2017. PMID: 28035529 Review.
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, ca …
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies in …
Neuro-ophthalmic genetics.
Kerrison JB, Maumenee IH. Kerrison JB, et al. Curr Opin Ophthalmol. 1997 Dec;8(6):35-40. doi: 10.1097/00055735-199712000-00006. Curr Opin Ophthalmol. 1997. PMID: 10176101 Review.
Mutations in nuclear or mitochondrial DNA may cause disorders of neuro-ophthalmic significance. These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular m …
Mutations in nuclear or mitochondrial DNA may cause disorders of neuro-ophthalmic significance. These include disorders of the optic …
Leber's Hereditary Optic Neuropathy: Novel Views and Persisting Challenges.
Jancic J, Samardzic J, Stojanovic S, Stojanovic A, Milanovic AM, Nikolic B, Ivancevic N, Kostic V. Jancic J, et al. CNS Neurol Disord Drug Targets. 2017;16(8):927-935. doi: 10.2174/1871527316666170724172455. CNS Neurol Disord Drug Targets. 2017. PMID: 28745242 Review.
BACKGROUND & OBJECTIVE: Leber's hereditary optic neuropathy is an inherited form of optic neuropathy, genetically and pathophysiologically based on mitochondrial insufficiency causing bilateral loss of central vision mostly amongst young adults. .. …
BACKGROUND & OBJECTIVE: Leber's hereditary optic neuropathy is an inherited form of optic neuropathy, geneti …
210 results