Cargando…

Therapeutic Options in Hereditary Optic Neuropathies

Options for the effective treatment of hereditary optic neuropathies have been a long time coming. The successful launch of the antioxidant idebenone for Leber’s Hereditary Optic Neuropathy (LHON), followed by its introduction into clinical practice across Europe, was an important step forward. Neve...

Descripción completa

Detalles Bibliográficos
Autores principales:	Amore, Giulia, Romagnoli, Martina, Carbonelli, Michele, Barboni, Piero, Carelli, Valerio, La Morgia, Chiara
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2020
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7843467/ https://www.ncbi.nlm.nih.gov/pubmed/33159657 http://dx.doi.org/10.1007/s40265-020-01428-3

Ejemplares similares

Medical Management of Hereditary Optic Neuropathies
por: La Morgia, Chiara, et al.
Publicado: (2014)

Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy
por: Calzetti, Giacomo, et al.
Publicado: (2022)

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy
por: Romagnoli, Martina, et al.
Publicado: (2020)

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10
por: Fiorini, Claudio, et al.
Publicado: (2023)

Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber’s Hereditary Optic Neuropathy
por: Manners, David Neil, et al.
Publicado: (2022)

Editorial: Hereditary Optic Neuropathies: A New Perspective
por: Carelli, Valerio, et al.
Publicado: (2021)

A neurodegenerative perspective on mitochondrial optic neuropathies
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2016)

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
por: La Morgia, Chiara, et al.
Publicado: (2019)

Secondary Post-Geniculate Involvement in Leber’s Hereditary Optic Neuropathy
por: Rizzo, Giovanni, et al.
Publicado: (2012)

Changes in Choroidal Thickness follow the RNFL Changes in Leber’s Hereditary Optic Neuropathy
por: Borrelli, Enrico, et al.
Publicado: (2016)

Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
por: Carelli, Valerio, et al.
Publicado: (2007)

Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
por: Amore, Giulia, et al.
Publicado: (2022)

Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements
por: Carbonelli, Michele, et al.
Publicado: (2015)

Optic neuropathies: the tip of the neurodegeneration iceberg
por: Carelli, Valerio, et al.
Publicado: (2017)

Patterns of Retinal Ganglion Cell Damage in Neurodegenerative Disorders: Parvocellular vs Magnocellular Degeneration in Optical Coherence Tomography Studies
por: La Morgia, Chiara, et al.
Publicado: (2017)

Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy
por: Santarelli, Rosamaria, et al.
Publicado: (2019)

Melanopsin Retinal Ganglion Cells and Pupil: Clinical Implications for Neuro-Ophthalmology
por: La Morgia, Chiara, et al.
Publicado: (2018)

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy
por: Caporali, Leonardo, et al.
Publicado: (2018)

Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder
por: La Morgia, Chiara, et al.
Publicado: (2021)

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy
por: Achilli, Alessandro, et al.
Publicado: (2012)

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
por: Peverelli, Lorenzo, et al.
Publicado: (2021)

Chromatic Pupillometry Findings in Alzheimer’s Disease
por: Romagnoli, Martina, et al.
Publicado: (2020)

Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study
por: Battista, Marco, et al.
Publicado: (2022)

Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene
por: Santarelli, Rosamaria, et al.
Publicado: (2021)

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
por: Stenton, Sarah L., et al.
Publicado: (2021)

Natural history of patients with Leber hereditary optic neuropathy—results from the REALITY study
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2021)

The optic nerve: A “mito-window” on mitochondrial neurodegeneration
por: Maresca, Alessandra, et al.
Publicado: (2013)

Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy
por: Danese, Alberto, et al.
Publicado: (2022)

Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study
por: Biousse, Valérie, et al.
Publicado: (2021)

Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy
por: Sahel, José-Alain, et al.
Publicado: (2021)

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
por: Caporali, Leonardo, et al.
Publicado: (2020)

Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy
por: Manickam, Agaath Hedina, et al.
Publicado: (2017)

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
por: Stenton, Sarah L., et al.
Publicado: (2022)

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy
por: Giordano, Carla, et al.
Publicado: (2014)

Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives
por: Peron, Camille, et al.
Publicado: (2021)

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy
por: Hudson, Gavin, et al.
Publicado: (2010)

Leber hereditary optic neuropathy: current perspectives
por: Meyerson, Cherise, et al.
Publicado: (2015)

Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease
por: La Morgia, Chiara, et al.
Publicado: (2023)

Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON)
por: Guy, John, et al.
Publicado: (2008)

Clinical Overview of Leber Hereditary Optic Neuropathy
por: Stramkauskaitė, Almina, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_kptco51t5t0dvafav6ecpslmev