Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

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

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.

A rare constellation of bilateral progressive visual and auditory loss in neurofibromatosis type 2: a multimodal diagnostic approach.

Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy.

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

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

Concomitant dominant optic atrophy and juvenile glaucoma in two siblings with a novel OPA1 splicing variant.

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

A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophy.

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

Pharmacologic Inhibition of YAP/TEAD and Development of New Chorioretinal Atrophy.

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.

The Neuro-Ophthalmologic Manifestations of SPG7-Associated Disease.

Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.

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

Wolfram-like Syndrome: Shedding Light on a Variant of Wolfram Syndrome.

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

Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.

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

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.

"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.

Pigmented Paravenous Chorioretinal Atrophy (PPCRA).

Autosomal dominant retinitis pigmentosa: An extended family report of the Asp-190-Tyr variant.

CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy.

Angioid streaks in hereditary spherocytosis associated with an SPTB gene variant.

A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome.

Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients.

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.

Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype.

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

Novel in vivo models of autosomal optic atrophy reveal conserved pathological changes in neuronal mitochondrial structure and function.

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.

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.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family.

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.

If at first you don't succeed, try, try again.

Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells.

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

The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.

Derivation and Characterization of Isogenic OPA1 Mutant and Control Human Pluripotent Stem Cell Lines.

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.

Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.

OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution.

A NOVEL DE NOVO LIKELY PATHOGENIC VARIANT OF WFS-1 GENE IN A PAKISTANI CHILD WITH NON-CLASSIC WFS-1 SPECTRUM DISORDER.

Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy.

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

Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Multimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.

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.

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

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.

Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?

The mutation R107Q alters mtSSB ssDNA compaction ability and binding dynamics.

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.

A Wolfram-like syndrome family: Case report.

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

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

Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic.

The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.

[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].

[Wolfram-like syndrome: a case report].

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

AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders.

Sectorial Ganglion Cell Complex Thickness as Biomarker of Vision Outcome in Patients With Dominant Optic Atrophy.

Digenic FLNA and UCHL1 variants resulting in a complex phenotype.

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.

OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.

A review for the correlation between optic atrophy 1-dependent mitochondrial fusion and cardiovascular disorders.

Mitochondrial OPA1 Deficiency Is Associated to Reversible Defects in Spatial Memory Related to Adult Neurogenesis in Mice.

[Long noncoding RNA H19 promotes vascular calcification by repressing the Bax inhibitor 1/optic atrophy 1 pathway].

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

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.

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

OPA1 deficiency impairs oxidative metabolism in cycling cells, underlining a translational approach for degenerative diseases.

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Oxidization of optic atrophy 1 cysteines occurs during heart ischemia-reperfusion and amplifies cell death by oxidative stress.

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

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.

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.

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.

Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke.

Mitochondrial optic neuropathies.

Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism.

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.

Choroidal vascularity index in hereditary optic neuropathies.

Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome.

The effects of nuclear DNA mutations on mitochondrial function.

[Autosomal recessive optic neuropathies: genetic variants, clinical manifestations].

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

Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures.

Current treatment options for treating OPA1-mutant dominant optic atrophy.

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

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

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.

Ophthalmic manifestations of MEPAN syndrome.

Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography.

Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management.

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.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

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

Nuclear DNA Mutation in KIF5A Causing Autosomal Dominant Phenotypic Leber Hereditary Optic Neuropathy.

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.

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

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.

Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

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.

The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies.

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.

Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.

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

[Bax inhibitor 1 inhibits vascular calcification in mice by activating optic atrophy 1 expression].

Wolfram Syndrome 1: From Genetics to Therapy.

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant.

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.

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

Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation.

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

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

Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy.

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.

Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome.

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

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.

Oxidative Stress in Optic Neuropathies.

[New possibilities in diagnosis of hereditary optic neuropathies].

Wolfram-like syndrome - another face of a rare disease in children.

Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?

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

Genetically altered animal models for ATP1A3-related disorders.

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.

Peripapillary capillary network in dominant optic atrophy linked to OPA1 gene.

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

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.

Protective Effect of Optic Atrophy 1 on Cardiomyocyte Oxidative Stress: Roles of Mitophagy, Mitochondrial Fission, and MAPK/ERK Signaling.

Microcystic macular degeneration in autosomal hereditary optic neuropathies: A cross-sectional retrospective study.

Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.

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

Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.

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.

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.

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

Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report.

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Dominant optic atrophy: Culprit mitochondria in the optic nerve.

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

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.

Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.

Efficacy of GLP-1 Agonist Therapy in Autosomal Dominant WFS1-Related Disorder: A Case Report.

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report.

Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review.