Cargando…

Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature

BACKGROUND: The A3243G point mutation in mitochondrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MIDD syndromes (maternally inherited diabetes and deafness). Both MELAS and MIDD patients can present with visual symptoms d...

Descripción completa

Detalles Bibliográficos
Autores principales:	Daruich, Alejandra, Matet, Alexandre, Borruat, François-Xavier
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059104/ https://www.ncbi.nlm.nih.gov/pubmed/24906873 http://dx.doi.org/10.1186/1471-2415-14-77

Ejemplares similares

Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
por: Rath, P P, et al.
Publicado: (2008)

EFFICACY OF INTRAVITREAL AFLIBERCEPT IN MACULAR TELANGIECTASIA TYPE 1 IS LINKED TO THE OCULAR ANGIOGENIC PROFILE
por: Kowalczuk, Laura, et al.
Publicado: (2017)

Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA
por: Henning, F., et al.
Publicado: (2007)

Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G
por: Majamaa-Voltti, Kirsi, et al.
Publicado: (2002)

Mitochondrial m.3243A > G mutation and carotid artery dissection
por: Mancuso, Michelangelo, et al.
Publicado: (2016)

Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype
por: Iwanicka-Pronicka, Katarzyna, et al.
Publicado: (2012)

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients
por: Smeitink, Jan, et al.
Publicado: (2019)

Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype
por: Li, Danyang, et al.
Publicado: (2022)

Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation
por: Miyahara, Hiroaki, et al.
Publicado: (2023)

Systemic adalimumab induces peripheral corneal infiltrates: a case report
por: Matet, Alexandre, et al.
Publicado: (2015)

Mitochondrial vasculopathy due to the m.3243A > G mutation is not restricted to the carotid artery
por: Finsterer, Josef, et al.
Publicado: (2016)

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
por: Pickett, Sarah J., et al.
Publicado: (2018)

Quantification of gait in mitochondrial m.3243A > G patients: a validation study
por: Ramakers, Rob, et al.
Publicado: (2017)

Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G
por: Finsterer, Josef, et al.
Publicado: (2020)

The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models
por: Ryytty, Sanna, et al.
Publicado: (2023)

Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report
por: Liu, Xiao-Qun, et al.
Publicado: (2019)

Impact of Mitochondrial A3243G Heteroplasmy on Mitochondrial Bioenergetics and Dynamics of Directly Reprogrammed MELAS Neurons
por: Lin, Dar-Shong, et al.
Publicado: (2022)

SUBFOVEAL NODULE IN COATS' DISEASE: Toward an Updated Classification Predicting Visual Prognosis
por: Daruich, Alejandra L., et al.
Publicado: (2017)

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study
por: Ramakers, Rob, et al.
Publicado: (2017)

Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers
por: Langdahl, Jakob Høgild, et al.
Publicado: (2019)

The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation
por: Motlagh Scholle, Leila, et al.
Publicado: (2020)

Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder
por: Bourke, John P, et al.
Publicado: (2022)

Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation
por: Chichagova, Valeria, et al.
Publicado: (2017)

Audio Profiles in Mitochondrial Deafness m.1555A>G and m.3243A>G Show Distinct Differences
por: Iwanicka-Pronicka, Katarzyna, et al.
Publicado: (2015)

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
por: Hollingsworth, Kieren G., et al.
Publicado: (2012)

Mitochondrial DNA m.3243A > G heteroplasmy affects multiple aging phenotypes and risk of mortality
por: Tranah, Gregory J., et al.
Publicado: (2018)

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders
por: Janssen, Mirian C.H., et al.
Publicado: (2018)

Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation
por: Suzuki, Junichiro, et al.
Publicado: (2017)

Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA
por: Zweers, Heidi E. E., et al.
Publicado: (2020)

Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant
por: Klein, Inge‐Lot, et al.
Publicado: (2022)

Macular corneal dystrophy with isolated peripheral Descemet membrane deposits
por: Zhang, Wenlin, et al.
Publicado: (2019)

Gastrointestinal Involvement in m.3243A>G-associated MELAS
por: Finsterer, Josef, et al.
Publicado: (2017)

The m.3243A>G Genotype Can Be Associated with Rhabdomyolysis
por: Finsterer, Josef
Publicado: (2020)

Oral Mineralocorticoid-Receptor Antagonists: Real-Life Experience in Clinical Subtypes of Nonresolving Central Serous Chorioretinopathy With Chronic Epitheliopathy
por: Daruich, Alejandra, et al.
Publicado: (2016)

The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes
por: Tabebi, Mouna, et al.
Publicado: (2020)

Genomic characterization of chromosome 8 pericentric trisomy
por: Vander Pluym, Juliana H, et al.
Publicado: (2015)

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation
por: Pierron, Denis, et al.
Publicado: (2008)

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease()()()
por: Bates, Matthew G.D., et al.
Publicado: (2013)

Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA
por: Xia, Chang-Yu, et al.
Publicado: (2016)

ATF5, a putative therapeutic target for the mitochondrial DNA 3243A > G mutation-related disease
por: Gao, Xinpei, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_08t8j23gspd4mi516h9q7b2hv8