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126 Posterior Reversible Encephalopathy Syndrome in a Leber Hereditary Optic Neuropathy Patient With Mitochondrial DNA 11778G>A Point MutationAdolescent; Brain; DNA, Mitochondrial; Humans; Magnetic Resonance Imaging; Male; Optic Atrophy, Hereditary, Leber; Point Mutation; Posterior Leukoencephalopathy Syndrome
127 From Genotype to Phenotype in Leber Hereditary Optic NeuropathyAnimals; DNA, Mitochondrial/genetics; Genotype; Humans; Mice; Optic Atrophy, Hereditary, Leber/genetics; Phenotype; Point Mutation/physiology
128 Leber Hereditary Optic Neuropathy G11778A Gene Therapy Clinical Trial: Stability of Clinical Parameters in Preparatory Phase Based on Onset of Visual LossThe preparatory phase of the LHON gene therapy trial aims to characterize affected patients and carriers for the planned gene therapy study that will utilize "allotopic expression" via an adeno-associated virus vector. We have followed the natural history of affected patients to characterize visual ...Leber Hereditary Optic neuropathy; Gene TherapyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
129 Leber Hereditary Optic Neuropathy G11778A Gene Therapy Clinical Trial: Stability of Clinical Parameters in Preparatory Phase Based on Onset of Visual LossThe preparatory phase of the LHON gene therapy trial aims to characterize affected patients and carriers for the planned gene therapy study that will utilize "allotopic expression" via an adeno-associated virus vector. We have followed the natural history of affected patients to characterize visual ...Leber Hereditary Optic neuropathy; Gene TherapyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
130 Visual Loss Due to ATP Defieciency: A Genre of Optic NeuropathyA hypothesis will be presented as an explanation for a class of optic neuropathy resulting from a deficiency of ATP. The foundation forthis hypothesis is based upon the newly documented mitochondrial DNAdefects that are often found in patients with Leber's hereditary optic neuropathy. The genetic de...ATP Deficiency; Optic Neuropathy; Mitochondrial DNA defects; Leber's Optic Hereditary Optic Neuropathy; Oxidative PhosphorylationNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
131 Leber Hereditary Optic Neuropathy Mimicking Neuromyelitis OpticaNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
132 Leber Hereditary Optic Neuropathy Mimicking Neuromyelitis OpticaOlder people; Diagnosis, Differential; Female; Humans; Multiple Sclerosis/diagnosis; Multiple Sclerosis/genetics; Neuromyelitis Optica/diagnosis; Neuromyelitis Optica/genetics; Optic Atrophy, Hereditary, Leber/diagnosis; Optic Atrophy, Hereditary, Leber/genetics; Spinal Cord Compression/diagnosis; S...
133 Proportion of 11778 Mutant Mitrochondrial DNA and Clinical Expression in a Thai Population with Leber Hereditary Optic NeuropathyAdolescent; Adult; Age of Onset; Older people, 80 and over; Child; DNA, Mitochondrial, blood; DNA, Mitochondrial, genetics; Female; Humans; Male; Middle Older people; Optic Atrophy, Hereditary, Leber, epidemiology; Optic Atrophy, Hereditary, Leber, genetics; Pedigree; Point Mutation; Polymorphism, G...
134 Leber's Hereditary Optic Neuropathy in Older Individuals Because of Increased Alcohol Consumption During the COVID-19 Pandemic
135 A Case of Atypical Leber Hereditary Optic Neuropathy With Slow, Symmetrical Progression Over Three Years
136 Combinations of Polymorphic Mitochondrial DNA Variants Cause Leber's Hereditary Optic NeuropathyLeber's hereditary optic neuropathy (LHON) is traditionally associated with primary mitochondrial DNA (mtDNA) mutations exerting the role of a necessary but not sufficient genetic factor for disease. A few families segregating LHON along the maternal line lack a primary mtDNA pathogenic mutation, po...Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
137 Matched eyes from a natural history study as an external control group in LHONLeber's Hereditary Optic Neuropathy (LHON) is an orphan mitochondrial disease resulting in loss of vision due to optic nerve atrophy. The efficacy of idebenone, a synthetic analogue of coenzyme Q10, in LHON has been demonstrated in a randomized controlled trial (Klopstock et al., 2011) and in a case...Optic Neuropathy; Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
138 Psychometric Validity of the National Eye Institute Visual Function Questionnaire in Leber Hereditary Optic NeuropathyThe National Eye Institute Visual Function Questionnaire (VFQ-25) is a 26-item (25 vision-related and 1 general health) patient-reported outcome measure, widely used to assess vision-related quality of life in a range of ocular conditions, including recent clinical trials for Leber hereditary optic ...Genetic Disease; Optic Neuropathy; MiscellaneousNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
139 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy
140 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy
141 Clinical experience with Idebenone (Raxone) in the treatment of patients with Lebers Hereditary Optic Neuropathy (LHON)An increasing body of evidence indicates that idebenone has therapeutic potential for the treatment of LHON. Data from a randomized placebo-controlled study (RHODOS) and from case reports and retrospective cohort studies demonstrate that patients with established vision loss may benefit from idebeno...Idebenone; Leber's Hereditary Optic Neuropathy; Idebenone Treatment; Visual Acuity RecoveryNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
142 Clinical experience with Idebenone (Raxone) in the treatment of patients with Lebers Hereditary Optic Neuropathy (LHON)An increasing body of evidence indicates that idebenone has therapeutic potential for the treatment of LHON. Data from a randomized placebo-controlled study (RHODOS) and from case reports and retrospective cohort studies demonstrate that patients with established vision loss may benefit from idebeno...Idebenone; Leber's Hereditary Optic Neuropathy; Idebenone Treatment; Visual Acuity RecoveryNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
143 Combinations of Polymorphic Mitochondrial DNA Variants Cause Leber's Hereditary Optic NeuropathyLeber's hereditary optic neuropathy (LHON) is traditionally associated with primary mitochondrial DNA (mtDNA) mutations exerting the role of a necessary but not sufficient genetic factor for disease. A few families segregating LHON along the maternal line lack a primary mtDNA pathogenic mutation, po...Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
144 Isolated Hereditary Optic Neuritis/NeuropathyLeber's hereditary optic neuropathy is a mitochondrial hereditary optic neuropathy that usually affects young males but may occur at any age and in males or females. The clinical features are usually acute bilateral simultaneous or sequential visual loss with a central acuity and central visual fiel...Leber's Optic NeuropathyNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
145 Isolated Hereditary Optic Neuritis/NeuropathyLeber's hereditary optic neuropathy is a mitochondrial hereditary optic neuropathy that usually affects young males but may occur at any age and in males or females. The clinical features are usually acute bilateral simultaneous or sequential visual loss with a central acuity and central visual fiel...Leber's Optic NeuropathyNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
146 Isolated Hereditary Optic Neuritis/NeuropathyLeber's hereditary optic neuropathy is a mitochondrial hereditary optic neuropathy that usually affects young males but may occur at any age and in males or females. The clinical features are usually acute bilateral simultaneous or sequential visual loss with a central acuity and central visual fiel...Leber's Optic NeuropathyNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
147 Leber Hereditary Optic Neuropathy G11778A Gene Therapy Clinical Trial: Stability of Clinical Parameters of Carriers in Preparatory PhaseThe preparatory phase of the LHON gene therapy trial aims to characterize affected G11778A patients and carriers for the planned trial that will utilize allotopic expression via an adeno-associated virus vector. This report focuses on the natural history of visual outcome measures in asymptomatic G1...Leber Hereditary Optic Neuropathy; G11778A Gene Therapy; Asymptomatic G11778A Carriers; Pattern Electroretinogram; Spectral-Domain OCT; Ganglion Cell LayerNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
148 Leber Hereditary Optic Neuropathy G11778A Gene Therapy Clinical Trial: Stability of Clinical Parameters of Carriers in Preparatory PhaseThe preparatory phase of the LHON gene therapy trial aims to characterize affected G11778A patients and carriers for the planned trial that will utilize allotopic expression via an adeno-associated virus vector. This report focuses on the natural history of visual outcome measures in asymptomatic G1...Leber Hereditary Optic Neuropathy; G11778A Gene Therapy; Asymptomatic G11778A Carriers; Pattern Electroretinogram; Spectral-Domain OCT; Ganglion Cell LayerNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
149 Mitochondrial CytopathiesIn this chapter we review some basics of mitochondrial genetics, and relate recent developments in mitochondrial genetics to three specific neuro-ophthalmic disorders. These disorders are the Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia and Leber hereditary optic neuropathy. T...Kearns-Sayre Syndrome; Chronic Progressive External Ophthalmoplegia; Leber's Hereditary Optic Neuropathy; Mitochondrial DisordersNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
150 Preliminary Safety and Tolerability Results Of A Recombinant Adeno-Associated Viral Vector Serotype 2Introduction: Our goal is to report the results of a first-in-man safety trial of gene therapy in patients with Leber Hereditary Optic Neuropathy (LHON).Leber Hereditary Optic Neuropathy, Mitochondrial Genetic Disorder, Gene Therapy, Adeno Associated Viral Vector, Safety and Tolerability TrialNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
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