Disease: Optic atrophy 6
- <em>In vitro</em> and <em>in vivo</em> studies on the effect of a mitochondrial fusion promoter on Leydig cell integrity and function
- A 24-Year-Old Man With Spastic Ataxia and Hypodontia
- A Case of Full Thickness Parafoveal Hole Associated with Chorio-Retinal Atrophy
- A challenging differential diagnosis - Leber's Hereditary Optic Neuropathy
- A cis-regulatory module underlies retinal ganglion cell genesis and axonogenesis
- A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
- A new segmentation algorithm for peripapillary atrophy and optic disk from ultra-widefield Photographs(1)
- A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
- A Single-Center Case Series of Acute Retinal Necrosis at Teikyo University: Clinical Characteristics and Treatment Outcomes
- A very rare presentation of mitochondrial elongation factor Tu deficiency-<em>TUFM</em> mutation and literature review
- Altered Glycolysis, Mitochondrial Biogenesis, Autophagy and Apoptosis in Peritoneal Endometriosis in Adolescents
- An Algorithmic Approach to MR Imaging of Hypomyelinating Leukodystrophies
- Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome
- Atypical Presentation of Foster Kennedy Syndrome due to Neurocysticercosis: A Rare Case Report
- Beyond Vision and Hearing: A Case Report of Wolfram Syndrome
- Brain-Derived Neurotrophic Factor Val66Met is Associated with Variation in Cortical Structure in Healthy Aging Subjects
- Cardiac-specific PFKFB3 overexpression prevents diabetic cardiomyopathy via enhancing OPA1 stabilization mediated by K6-linked ubiquitination
- Cardioprotective Action of a Novel Synthetic 19,20-EDP Analog Is Sirt Dependent
- Characteristics of myopic maculopathy in Chinese children and adolescents with high myopia
- Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis
- Clinical Characteristics of m.11778G>A Leber Hereditary Optic Neuropathy with Favorable Outcomes
- Clinical Course and Visual Outcomes of Papilledema in Pediatric Cerebral Venous Sinus Thrombosis
- Clinical follow-up investigation on thickness changes in the peripapillary retinal nerve fibre layer of patients with Leber hereditary optic neuropathy
- Clinically Diagnosed Occult Macular Dystrophy Habouring an m.14502T>C Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy: Case Report and Literature Review
- Clinically Diagnosed Occult Macular Dystrophy Habouring an m.14502T>C Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy: Case Report and Literature Review
- CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy
- Comparative features of superior versus inferior hemisphere microvasculature dropout in open-angle glaucoma
- Comparison of inebilizumab or rituximab in addition to glucocorticoid therapy for neuromyelitis optica spectrum disorders
- Deep anterior lamellar keratoplasty and penetrating keratoplasty in macular corneal dystrophy: comparison of visual and topographic outcomes and complications
- Deep anterior lamellar keratoplasty and penetrating keratoplasty in macular corneal dystrophy: comparison of visual and topographic outcomes and complications
- Deep Learning-Enabled Vasculometry Depicts Phased Lesion Patterns in High Myopia Progression
- Delayed Postnatal Synostosis without Spheno-occipital Synchondrosis Fusion: A Curious Case of Apert Syndrome
- Dietary alpha-ketoglutarate alleviates Escherichia coli LPS-induced intestinal barrier injury by modulating the endoplasmic reticulum-mitochondrial system pathway in piglets
- Dietary α-Ketoglutarate Alleviates Escherichia coli LPS-Induced Intestinal Barrier Injury by Modulating the Endoplasmic Reticulum-Mitochondrial System Pathway in Piglets
- Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
- Dyskinetic Cerebral Palsy in Children: Clinical Perspectives on Common Comorbidities and Health-Related Quality of Life
- Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy
- Endoscopic Optic Nerve Decompression in a Hamamy Syndrome Patient With Bilateral Optic Canal Stenosis
- Establishing Optic Nerve Diameter Threshold Sensitive and Specific for Optic Atrophy Diagnosis
- Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies
- Exploring mito-nuclear genetic factors in Leber's hereditary optic neuropathy: insights from comprehensive profiling of unique cases
- Fundus Tessellated Density of Pathologic Myopia
- Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
- Gene therapy for Leber hereditary optic neuropathy
- Generalizability of Deep Neural Networks for Vertical Cup-to-Disc Ratio Estimation in Ultra-Widefield and Smartphone-Based Fundus Images
- Glaucoma as a cause of optic nerve abnormalities on magnetic resonance imaging
- Heterochromia
- High-Dose-Rate Yttrium-90 (<sup>90</sup>Y) Episcleral Plaque Brachytherapy for Iris and Iridociliary Melanoma
- Homozygous <em>CNP</em> Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions
- Human neural stem cells promote mitochondrial genesis to alleviate neuronal damage in MPTP-induced cynomolgus monkey models
- Idebenone Treatment in Patients with OPA1-Dominant Optic Atrophy: A Prospective Phase 2 Trial
- Infectious Scleritis - Clinical Characteristics, Causative Factors, and Treatment Outcomes in an Indian Population
- Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic
- Inhibition of MFN1 restores tamoxifen-induced apoptosis in resistant cells by disrupting aberrant mitochondrial fusion dynamics
- Laryngeal stridor in children caused by reversible metabolic disease
- Lipidomics reveals the reshaping of the mitochondrial phospholipid profile in cells lacking OPA1 and mitofusins
- Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities
- Long-term changes in morphological and functional parameters of the optic nerve in patients with various genetic variants of hereditary optic neuropathies
- Long-term follow-up of a patient with partial optic nerve avulsion associated with submacular hemorrhage who underwent pneumatic displacement
- Long-Term Outcomes of Phacoemulsification Surgeries at ECWA Eye Hospital: A Prospective Clinical Cohort Study
- Longitudinal optical coherence tomography indices in idiopathic intracranial hypertension
- Microperimetry Characteristics of Regions With a Truly Nonresponding Location: Implications for Atrophic Age-Related Macular Degeneration
- MR Imaging of Adverse Effects and Ocular Growth Decline after Selective Intra-Arterial Chemotherapy for Retinoblastoma
- Natural history of mucopolysaccharidosis type III in a series of Colombian patients
- Neuroimaging features in Wolfram syndrome type 1
- Neuropathological hallmarks in the post-mortem retina of neurodegenerative diseases
- Novel <em>WFS1</em> Variants in Two Moroccan Families with Wolfram Syndrome
- Ocular findings in Jansen metaphyseal chondrodysplasia
- Ocular manifestations in Koolen-de Vries syndrome: an international study
- Optic Atrophy
- Optic Atrophy From Retrograde Transsynaptic Axonal Degeneration Following Pediatric Brain Injury
- Optic canal stenosis in Crouzon syndrome: a case report and literature review
- Optic Nerve MRI T2-Hyperintensity: A Nonspecific Marker of Optic Nerve Damage
- Optic Nerve T2 Signal Intensity and Caliber Reflect Clinical Severity in Genetic Optic Atrophy
- Optical coherence tomography with voxel-based morphometry: a new tool to unveil focal retinal neurodegeneration in multiple sclerosis
- Papillomacular bundle defect (PMBD) in glaucoma patients with high myopia: frequency and risk factors
- Peripapillary Atrophy Area as an Indicator of Glaucomatous Structural and Functional Progression
- Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants
- POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation
- Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review
- Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
- Prevalence and Causes of Blindness and Visual Impairment Among Nigerian Children: A Systematic Review
- Prevalence of blindness and visual impairment in a coastal region of Southern India: A cross-sectional survey in Prakasam district, Andhra Pradesh
- Prevalence of common and rare ophthalmic findings in adults attending a medical survey institute
- Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method
- Quantification of peripapillary nerve fibre elevation and its association with axial length, optic disc tilt, and parapapillary atrophy area in young, healthy eyes
- Quantitative analysis of optic disc changes in school-age children with ametropia based on artificial intelligence
- Rare encounter: Adult-onset temporal lobe schizencephaly with septo-optic dysplasia - a case report on comprehensive diagnosis and management
- Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber's hereditary optic neuropathy
- Real-world artificial intelligence-based interpretation of fundus imaging as part of an eyewear prescription renewal protocol
- Role of mitochondrial fusion proteins MFN2 and OPA1 on lung cellular senescence in chronic obstructive pulmonary disease
- Sodium butyrate improves renal injury in diabetic nephropathy through AMPK/SIRT1/PGC-1α signaling pathway
- Surgical Outcomes of Revision Orbital Reconstruction in Patients With Inadequate Primary Orbital Fracture Repair
- Temporal changes in incidence, prevalence and causes of childhood visual impairment - Learnings from 45 years with the National Danish Registry of Children with Visual Impairment
- The impact of eating disorders on idiopathic intracranial hypertension
- The MOG antibody non-P42 epitope is predictive of a relapsing course in MOG antibody-associated disease
- Trans-Synaptic Degeneration in the Visual Pathway in Patients With Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
- TRPA1-PI3K/Akt-OPA1-ferroptosis axis in ozone-induced bronchial epithelial cell and lung injury
- Visual evoked potential evaluation following brain injury in school-aged children
- Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants
