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101 Leber Hereditary Optic Neuropathy Gene Therapy Clinical Trial for G11778A MutationThe purpose of this presentation is to provide information and to improve enrollment in the preparatory phase of the LHON gene therapy clinical trial for the G11778A mutation.Leber hereditary optic neuropathy; gene therapy; clinical trialNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
102 Leber Hereditary Optic Neuropathy Gene Therapy Clinical Trial for G11778A MutationThe purpose of this presentation is to provide information and to improve enrollment in the preparatory phase of the LHON gene therapy clinical trial for the G11778A mutation.Leber hereditary optic neuropathy; gene therapy; clinical trialNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
103 Redox Sensitivity of Retinal Ganglion Cells: A Mechanism for Mitochondrial Optic Neuropathy?Leber's Hereditary optic neuropathy (LHON) is associated with specific mitochondrial DNA mutations. Prior studies have focused on abnormalities of ATP production as the mechanism by which these mutations result in retinal ganglion cell (RGC) death.Retinal Ganglion Cells; Redox Sensitivity; Mitochondrial Optic Neuropathy; Leber's Hereditary Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
104 Relative Sparing of Afferent Pupillary Pathways in LHON: A Postmortem StudyTo demonstrate if afferent pupillary fibers are spared in Leber's Hereditary Optic Neuropathy (LHON). It has been previously suggested that pupil light reaction is relatively preserved in affected eyes of patients with LHON, giving rise to visual-pupillomotor dissociation.Leber's Hereditary Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
105 Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease
106 Axonal Degeneration in Peripheral Nerves in a Case of Leber Hereditary Optic NeuropathyOlder people; Brachial Plexus Neuropathies; Disease Progression; Female; Humans; Optic Atrophy, Hereditary, Leber; Peripheral Nervous System Diseases; Wallerian Degeneration
107 Recurrent Bilateral Myelin Oligodendrocyte Glycoprotein Antibody Optic Neuritis in a Leber Hereditary Optic Neuropathy Carrier
108 Retinal vascular geometry and tortuosity changes in patients with Leber hereditary optic neuropathy (LHON)LHON is the most common primary mitochondrial DNA disorder. In the subacute stage, fundus examination typically reveals hyperaemic optic discs, telangiectactic microangiopathy, swelling of the retinal nerve fiber layer and tortuosity of the central retinal vessels. The purpose of the study was to de...Genetic Disease; Optic Neuropathy; MiscellaneousNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
109 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
110 Leber Hereditary Optic Neuropathy With Neuromyelitis Optica (NMO)-Like Presentation in 14-year-old MaleLeber hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disorder that affects males ages 10- 30 years. It presents as unilateral progressive optic neuropathy with subsequent involvement of contralateral eye. We describe a 14-year-old male who presented with bilateral visi...Genetic Disease; Retina; Optic Neuropathy; Pediatric Neuro-ophthalmology; Neuro-ophth & Systemic Disease (eg. MS, MG, Thyroid)Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
111 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
112 MRI of the optic nerves and chiasm in patients with Leber hereditary optic neuropathyLeber hereditary optic neuropathy (LHON) is a rare cause of optic neuropathy with a maternal mitochondrial transmission. This disease affects more frequently young men and leads to a severe bilateral and painless visual loss. The aim was to define cerebral and orbital magnetic resonance imaging (MRI...Genetic Disease, NeuroimagingNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
113 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
114 Acquired Mitochondrial Optic NeuropathiesThe elucidation of approximately one dozen mtDNA mutations has renewed interest in Leber's hereditary optic neuropathy (LHON). We recently performed a detailed histopathological study of ocular tissues from an LHON patient with 11778 mutation. There was destruction of the retinal ganglion cell layer...Mitochondrial Optic Neuropathies; Leber's Hereditary Optic Neuropathy; 11778 Mutation; Cuban Epidemic of Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
115 Field Investigation In Brazil of a Giant Pedigree of Leber's Hereditary Optic NeuropathyTo travel to rural Brazil to find as many members of a previously unstudied pedigree known to have Leber's hereditary optic neuropathy (LHON). Further, to conduct extensive epidemiological, neuro-ophthalmological, psychophysical and blood examinations in order to conduct multi-variant analysis on ep...Leber's; LHON; gene linkageNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
116 The Genetic Testing Paradigm for Leber's Hereditary Optic Neuropathy: Discovery of a New Candidate LHON Mitochondrial DNA MutationLeber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by mitochondrial DNA(mtDNA) mutations. Roughly 30 different mtDNA mutations have been associated with LHON, with variants at nucleotide positions (np) 3460, 11778, and 14484 ("primary" mutations) comprising about 80...LHON; mitochondrial DNA; mutationNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
117 GSTM1 and GSTT1 Deletion Genotypes in Various Spontaneous Optic NeuropathiesWe previously reported mitochondrial abnormalities in Leber hereditary optic neuropathy-like optic neuropathy (LLON), non-arteritic ischemic optic neuropathy (NAION), optic neuritis (ON), and sporadic bilateral optic neuropathy in children (SBON), suggesting that mitochondrial dysfunction and result...glutathione S-transferase; optic neuritis; Leber hereditary optic neuropathy; non-arteritic ischemic optic neuropathy; oxidative stressNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
118 Health-Related Quality of Life for Persons Affected by Leber's Optic NeuropathyLeber's hereditary optic neuropathy (LHON) is a maternally inherited eye disease that produces varying levels of visual impairment usually in the second or third decade of life. Research has focused on the genetics of the mitrochondrial mutations that underlie the disease, however little attention h...Leber's Hereditary Optic Neuropathy; Mitochondrial Mutations; Health-Related Quality of LifeNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
119 Leber Hereditary Optic Neuropathy Gene Therapy Clinical Trial for G11778A Mutation: Serial Pretreatment Evaluation from Baseline to One YearThe aim of the preparatory phase of the LHON gene therapy clinical trial is to identify and characterize affected patients and carriers for planned gene therapy studies that will utilize "allotopic expression" by delivering copies of normal nuclear-encoded ND4 gene into the nuclei of retinal ganglio...Leber Hereditary Optic Neuropathy; Gene TherapyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
120 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
121 Macular microcysts in mitochondrial optic neuropathies: a non-specific feature due to vitreous tractionTo assess the prevalence of macular microcysts (MM) in patients with Lebers hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) and investigate the thickness of the different retinal layers in patients with and without MM.Macular Microcysts; Lebers Hereditary Optic Neuropathy; Dominant Optic Atrophy; Retinal Layer ThicknessNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
122 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
123 Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy
124 Chiasmal High Signal on Magnetic Resonance Imaging in the Atrophic Phase of Leber Hereditary Optic NeuropathyAdult; Fluorescein Angiography; Humans; Magnetic Resonance Imaging/methods; Male; Optic Atrophy, Hereditary, Leber/diagnosis; Optic Atrophy, Hereditary, Leber/pathology; Optic Atrophy, Hereditary, Leber/physiopathology; Optic Chiasm/pathology; Optic Chiasm/physiopathology; Visual Fields/physiology
125 Distended optic nerve sheaths in Leber's hereditary optic neuropathy.Adult; Fundus Oculi; Humans; Male; Myelin Sheath; Optic Atrophies, Hereditary; Optic Disk; Optic Nerve Diseases; Retina
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