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126 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
127 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
128 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
129 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
130 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
131 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
132 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
133 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
134 Leber's Hereditary Optic Neuropathy in WomenLeber's hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by selective degeneration of retinal ganglion cells with significant gender bias and incomplete penetrance. We aimed at refining the characteristics of LHON in women.Genetic Disease; Neuro-ophth & Systemic Disease (eg. MS, MG, Thyroid); Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
135 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
136 A Case of Atypical Leber Hereditary Optic Neuropathy With Slow, Symmetrical Progression Over Three Years
137 Asynchronous Onset in Leber's Hereditary Optic NeuropathyLeber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease characterized by asynchronous subacute vision loss. The purpose of this study was to determine if there was a correlation between age of onset and synchronicity of vision loss and the different mutation types.Optic Neuropathy; Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
138 Leber's Hereditary Optic Neuropathy in WomenLeber's hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by selective degeneration of retinal ganglion cells with significant gender bias and incomplete penetrance. We aimed at refining the characteristics of LHON in women.Genetic Disease; Neuro-ophth & Systemic Disease (eg. MS, MG, Thyroid); Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
139 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
140 Psychometric Validity of the Visual Function Index (VF-14) in Leber Hereditary Optic NeuropathyThe Visual Function Index (VF-14) is a widely used patient-reported outcome measure (PROM) for assessing vision-related activity limitation in individuals with a variety of ophthalmological conditions. The purpose of this study was to determine the psychometric validity of the VF-14 for use by indiv...Genetic Disease; Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
141 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy
142 Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy
143 DOA, Wolfram, Is it All the Same? (Slides)Amongst the many causes of optic neuropathies, the inherited optic neuropathies are figuring more commonly in the differential diagnosis of otherwise unexplained optic atrophy, despite there often being no recognized family history. While in the past this diagnosis was often one of exclusion or pres...Optic Neuropathy; Optic Atrophy; Inherited; Dominant Optic Atrophy; Wolfram SyndromeNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
144 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
145 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
146 Optic Neuropathy: A Recipe for BlindnessAn epidemic of blindness and peripheral neuropathy struck Cuba in the early 90s. By the end of 1993, 7% of the population was affected. Most patients were men and presented with sub-acute, painless, bilateral loss of vision. The etiology of the disease pondered local and international scientists, es...Cuban Epidemic Optic Neuropathy; Leber's Hereditary Optic Neuropathy; Mitochondrial Insufficiency; Nutritional Optic Neuropathy; Pale Optic NerveNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
147 Are We There Yet? Is Neuro-Ophthalmology at the Cusp of a Paradigm Shift? Lessons From Leber Hereditary Optic Neuropathy: Erratum
148 Ocular vascular features in mitochondrial optic neuropathiesTo investigate the vascular dysfunction in Leber hereditary optic neuropathy (LHON). With different techniques we evaluated: (i) vascular dysfunction in asymptomatic (cLHON), acute (aLHON) and chronic (chLHON) stages of the disease, comparing LHON patients with healthy controls; (ii) vascular settin...Leber Hereditary Optic Neuropathy; Vascular Dysfunction; Macular Choroidal Thickness; Mitochondrial Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
149 Assessing the Impact of Long-Term Idebenone Treatment in Chronic Leber's Hereditary Optic Neuropathy: Results from the LEROS StudyPreservation and/or recovery of functional visual acuity (VA) are desirable outcomes for patients with Leber's hereditary optic neuropathy (LHON). In LEROS, VA outcomes following 24 months of idebenone treatment were compared to an external, matched, natural history (NH) cohort. Here, we report VA o...Genetic Disease; Optic Neuropathy; RetinaNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
150 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
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