Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy.

A Case Report of Unilateral OPA3-Related Dominant Optic Atrophy.

Volumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy patients.

Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study.

Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy.

Clinical and Genetic Findings in an Autosomal Dominant Optic Atrophy-Compatible Phenotype Harboring an OPA1 Variant: A Case Report.

Advanced therapies for inherited optic neuropathies.

IT TAKES TWO TO TANGO: potential novel therapies for autosomal dominant optic atrophy.

Chromatic pupil campimetry as objective diagnostic tool for progressive optic neuropathies.

A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy.

Technological advances in the diagnosis and management of inherited optic neuropathies.

"Adrift From the World": Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom-A Qualitative Study.

Natural History and Biomarker Challenges in Dominant Optic Atrophy: Implications for Therapeutic Studies.

Case of autosomal dominant optic atrophy with relatively good visual function.

Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy.

The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants.

SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy.

Longitudinal Visual Biomarkers in Dominant Optic Atrophy: A Systematic Review and Meta-Analysis.

OPA1 mutations in dominant optic atrophy: domain-specific defects in mitochondrial fusion and apoptotic regulation.

The Balance of MFN2 and OPA1 in Mitochondrial Dynamics, Cellular Homeostasis, and Disease.

Correlation between quality of vision and clinical and structural parameters in patients with Autosomal Dominant Optic Atrophy.

Targeting OPA1 protein for therapeutic intervention in autosomal dominant optic atrophy: In silico drug discovery.

Frequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases.

Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.

Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography.

OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution.

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells.

Mitochondria in Retinal Ganglion Cells: Unraveling the Metabolic Nexus and Oxidative Stress.

Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy.

Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.

Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations.

Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.

Genetic diversity of 1,845 rhesus macaques improves genetic variation interpretation and identifies disease models.

Targeting DRP1 with Mdivi-1 to correct mitochondrial abnormalities in ADOA+ syndrome.

Identifying therapeutic compounds for autosomal dominant optic atrophy (ADOA) through screening in the nematode C. elegans.

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29.

Short Wavelength Automated Perimetry, Standard Automated Perimetry, and Optical Coherence Tomography in Dominant Optic Atrophy.

[Chinese expert consensus on the clinical diagnosis and treatment of autosomal dominant optic atrophy (2024)].

OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.

Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.

Multi-omics analysis of the oncogenic role of optic atrophy 1 in human cancer.

Pyrroloquinoline quinone drives ATP synthesis in vitro and in vivo and provides retinal ganglion cell neuroprotection.

Visual Function and Inner Retinal Structure in Relation to Birth Factors in Autosomal Dominant Optic Atrophy.

Ginsenoside Rg1 protects cardiac mitochondrial function via targeting GSTP1 to block S-glutathionylation of optic atrophy 1.

Caenorhabditis elegans as a Model System to Study Human Neurodegenerative Disorders.

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing.

OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion.

Mitochondrial optic neuropathies.

Choroidal vascularity index in hereditary optic neuropathies.

The effects of nuclear DNA mutations on mitochondrial function.

The effect of serifs and stroke contrast on low vision reading.

Mechanistic study of optic atrophy 1 in ischemia-reperfusion disease.

Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.

Metabolic reprogramming in the OPA1-deficient cells.

Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant.

The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing.

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.

Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction.

Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.

Prevalence of Macular Microcystoid Lacunae in Autosomal Dominant Optic Atrophy Assessed With Adaptive Optics.

Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.

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

OPA1 Modulates Mitochondrial Ca2+ Uptake Through ER-Mitochondria Coupling.

Mitochondrial Retinopathies.

Omega-3 fatty acids promote neuroprotection, decreased apoptosis and reduced glial cell activation in the retina of a mouse model of OPA1-related autosomal dominant optic atrophy.

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption.

Oxidative Stress in Optic Neuropathies.

[New possibilities in diagnosis of hereditary optic neuropathies].

Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.

CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs.

Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.

Delayed diagnosis of autosomal dominant optic atrophy until seventh decade of life.

Red Light Irradiation In Vivo Upregulates DJ-1 in the Retinal Ganglion Cell Layer and Protects against Axotomy-Related Dendritic Pruning.

Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry.

Sustained intracellular calcium rise mediates neuronal mitophagy in models of autosomal dominant optic atrophy.

Colour-centred Release Hallucinations in a Patient with Early Parkinson's Disease and Unrecognised Autosomal Dominant Optic Atrophy.

New avenues for therapy in mitochondrial optic neuropathies.

Optical coherence tomography angiography in the multimodal assessment of the retinal posterior pole in autosomal dominant optic atrophy.

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.

Neuroinflammatory Mechanisms of Mitochondrial Dysfunction and Neurodegeneration in Glaucoma.

A Perspective on Accelerated Aging Caused by the Genetic Deficiency of the Metabolic Protein, OPA1.

[Clinical characteristics and research progress on the treatment of mitochondrial optic neuropathy].

Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.

Generation of an induced pluripotent stem cell line BIOi002-A from a patient with autosomal dominant optic atrophy.

OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion.

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.

Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy.

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.

BILATERAL EPIRETINAL MEMBRANE FORMATION AFTER INTRAVITREAL INJECTIONS OF AUTOLOGOUS MESENCHYMAL STEM CELLS.

Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility.

Comparison of Lamina Cribrosa Morphology in Normal Tension Glaucoma and Autosomal-Dominant Optic Atrophy.

Harnessing the protective role of OPA1 in diabetic cardiomyopathy.

Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.

Mitochondrial Gymnastics in Retinal Cells: A Resilience Mechanism Against Oxidative Stress and Neurodegeneration.

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Thickness mapping of individual retinal layers and sectors by Spectralis Spectral Domain-optical Coherence Tomography in Autosomal Dominant Optic Atrophy.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Structure and assembly of the mitochondrial membrane remodelling GTPase Mgm1.

Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C.

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Analysis of Inherited Optic Neuropathies.

Peripapillary and macular morpho-vascular changes in patients with genetic or clinical diagnosis of autosomal dominant optic atrophy: a case-control study.

[Genetic Causes and Genetic Diagnostic Testing of Inherited Optic Atrophies].

Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation.

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.

Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China.

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.

Dietary fat is a key determinant in balancing mitochondrial dynamics in heart failure: a novel mechanism underlying the obesity paradox.

The expanding neurological phenotype of DNM1L-related disorders.

[Hereditary Optic Neuropathies].

Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.

Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.

Thickness mapping of individual retinal layers and sectors by Spectralis SD-OCT in Autosomal Dominant Optic Atrophy.

Mitochondrial disorders of the retinal ganglion cells and the optic nerve.

Rescue of cell death and inflammation of a mouse model of complex 1-mediated vision loss by repurposed drug molecules.

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations.

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.

Pupillometric evaluation of the melanopsin containing retinal ganglion cells in mitochondrial and non-mitochondrial optic neuropathies.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry.

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

Optic nerve head microcirculation in autosomal dominant optic atrophy and normal-tension glaucoma.

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.

[Differential diagnosis of juvenile normal pressure glaucoma].

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy.

A neurodegenerative perspective on mitochondrial optic neuropathies.

Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.

Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies.

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder.

The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.

Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets.

Electrophysiological ON and OFF Responses in Autosomal Dominant Optic Atrophy.

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

Therapeutic Approaches to Inherited Optic Neuropathies.

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.

Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

Influence of Opa1 Mutation on Survival and Function of Retinal Ganglion Cells.

A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.

Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies.

Changes in Mitochondrial Morphology and Bioenergetics in Human Lymphoblastoid Cells With Four Novel OPA1 Mutations.

Dissociation of Pupillary Post-Illumination Responses from Visual Function in Confirmed OPA1 c.983A > G and c.2708_2711delTTAG Autosomal Dominant Optic Atrophy.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.