Cargando…

Vision‐related quality of life and visual ability in patients with autosomal dominant optic atrophy

PURPOSE: The purpose of the study was to evaluate vision‐related quality of life and visual ability in patients with OPA1 autosomal dominant optic atrophy (ADOA). METHODS: This cross‐sectional, observational study included 145 participants with a mutation in the OPA1 gene associated with ADOA, 63 mu...

Descripción completa

Detalles Bibliográficos
Autores principales:	Eckmann‐Hansen, Christina, Bek, Toke, Sander, Birgit, Larsen, Michael
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790332/ https://www.ncbi.nlm.nih.gov/pubmed/35146926 http://dx.doi.org/10.1111/aos.15102

Ejemplares similares

Visual Function and Inner Retinal Structure in Relation to Birth Factors in Autosomal Dominant Optic Atrophy
por: Eckmann-Hansen, Christina, et al.
Publicado: (2023)

Visual and psychological morbidity among patients with autosomal dominant optic atrophy
por: Bailie, Maura, et al.
Publicado: (2013)

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy
por: Mayorov, Vladimir I, et al.
Publicado: (2008)

Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy
por: Zaninello, Marta, et al.
Publicado: (2020)

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
por: Almind, Gitte J, et al.
Publicado: (2011)

Dissociation of Pupillary Post-Illumination Responses from Visual Function in Confirmed OPA1 c.983A > G and c.2708_2711delTTAG Autosomal Dominant Optic Atrophy
por: Nissen, Claus, et al.
Publicado: (2015)

Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy
por: Van Bergen, Nicole J., et al.
Publicado: (2011)

Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
por: Horga, Alejandro, et al.
Publicado: (2019)

Comparison of Lamina Cribrosa Morphology in Normal Tension Glaucoma and Autosomal-Dominant Optic Atrophy
por: Kim, Gyu-Nam, et al.
Publicado: (2020)

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy
por: Li, Yang, et al.
Publicado: (2008)

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy
por: Gallus, Gian Nicola, et al.
Publicado: (2010)

Sustained intracellular calcium rise mediates neuronal mitophagy in models of autosomal dominant optic atrophy
por: Zaninello, Marta, et al.
Publicado: (2021)

Dominant optic atrophy
por: Lenaers, Guy, et al.
Publicado: (2012)

High-Resolution En Face Images of Microcystic Macular Edema in Patients with Autosomal Dominant Optic Atrophy
por: Gocho, Kiyoko, et al.
Publicado: (2013)

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations
por: Lynch, David S., et al.
Publicado: (2017)

The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance
por: Strachan, Elin L., et al.
Publicado: (2021)

Non-Image-Forming Light Driven Functions Are Preserved in a Mouse Model of Autosomal Dominant Optic Atrophy
por: Perganta, Georgia, et al.
Publicado: (2013)

A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family
por: Zhang, Liping, et al.
Publicado: (2014)

Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets
por: Chen, Jing, et al.
Publicado: (2016)

SDOCT Thickness Measurements of Various Retinal Layers in Patients with Autosomal Dominant Optic Atrophy due to OPA1 Mutations
por: Schild, Andrea M., et al.
Publicado: (2013)

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report
por: Chang, Kai-Chieh, et al.
Publicado: (2020)

Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells
por: Sladen, Paul E, et al.
Publicado: (2022)

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis
por: Han, Jinfeng, et al.
Publicado: (2022)

Retinal atrophy in relation to visual functioning and vision-related quality of life in patients with multiple sclerosis
por: Balk, Lisanne J, et al.
Publicado: (2017)

Comparing cortical signatures of atrophy between late-onset and autosomal dominant Alzheimer disease
por: Dincer, Aylin, et al.
Publicado: (2020)

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort
por: Maeda-Katahira, Akiko, et al.
Publicado: (2019)

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
por: Jüschke, Christoph, et al.
Publicado: (2021)

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
por: Gerber, Sylvie, et al.
Publicado: (2023)

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

First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation
por: Kamakari, Smaragda, et al.
Publicado: (2014)

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay
por: Ścieżyńska, Aneta, et al.
Publicado: (2017)

Quality of Life in Autosomal Dominant Polycystic Kidney Disease Patients Treated With Tolvaptan
por: Anderegg, Manuel A., et al.
Publicado: (2020)

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy
por: Lynch, David S., et al.
Publicado: (2018)

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses
por: Majander, Anna, et al.
Publicado: (2017)

Autosomal dominant intellectual disability
por: Wieczorek, Dagmar
Publicado: (2018)

Autosomal dominant polycystic kidney
por: Gudadhe, Rugaved Raghavendra, et al.
Publicado: (2022)

A novel mutation in a case of dominant optic atrophy?
por: Ramkumar, Hema L, et al.
Publicado: (2014)

OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets
por: Wong, David C. S., et al.
Publicado: (2023)

Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles
por: Chen, Ting, et al.
Publicado: (2016)

MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION
por: Ricca, Aaron M., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_f9hps3sfntli5nhqo0c7q7m4fs