NOVEL - NANOS Annual Meeting
 
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1 Changes in Macular OCT Retinal Sublayers of Patients and Carriers in the Natural History Phase of the Leber Hereditary Optic Neuropathy G11778A Gene Therapy Clinical Trial Changes in Macular OCT Retinal Sublayers of Patients and Carriers in the Natural History Phase of the Leber Hereditary Optic Neuropathy G11778A Gene Therapy Clinical Trial Changes in Macular OCT Retinal Sublayers of Patients and Carriers in the Natural History Phase of the Leber Hereditary Optic Neuropathy G11778A Gene Therapy Clinical TrialWe determined macular retinal sublayer changes of patients and carriers with G11778A Leber hereditary optic neuropathy (LHON) by utilizing data from the natural history phase of the gene therapy trial where subjects underwent visual examination every 6 months from 2008 to 2013.Leber Hereditary Optic Neuropathy; OCT; Photoreceptor Outer SegmentNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
2 Hereditary Optic Neuropathy, Is There A Treatment?The past two decades have witnessed remarkable advances in our understanding of the clinical presentation, genetics and even the pathophysiology of the hereditary optic neuropathies, specifically Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).Leber Hereditary Optic Neuropathy; Dominant Optic Atrophy; Mitochondrial Disease; Hereditary optic neuropathy; LHONNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
3 Leber Hereditary Optic Neuropathy: from Bedside to Bench to BedsideThis lecture will trace the story of our growing understanding of Leber hereditary optic neuropathy (LHON) from clinical recognition, to the first demonstration of a point mutation in the mitochondrial DNA associated with a human disease, to ground-breaking attempts at gene therapy. Upon completion ...LHON; Leber Hereditary Optic Neuropathy; Gene TherapyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
4 How Similar are Ethambutol-Induced Optic Neuropathy and Leber's Hereditary Optic Neuropathy?It is known that toxic optic neuropathy and hereditary optic neuropathy have similar clinical characteristics. By comparing ethambutol-induced optic neuropathy (EON) and Leber's hereditary optic neuropathy (LHON), the representative diseases of each entity, respectively, we studied their similaritie...Ethambutol-Induced Optic Neuropathy; Leber's Hereditary Optic Neuropathy; Visual Loss; Visual Field Defect; Visual RecoveryNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
5 Mitochondrial Translation Optimizer-1 Mutation as a Cause of Hereditary Optic NeuropathyMitochondrial translation optimizer-1 (MTO1) mutations are a rare cause of hereditary optic neuropathy, with fewer than ten affected families reported in literature. Of these, only one family was reported to have vision loss. We present a case of hereditary optic neuropathy secondary to a mutation i...Optic neuropathy, Genetic Disease, Neuro-ophth & systyemic disease ( eg. MS, MG, thyroid), Pediatric Neuro-Ophthalmology, Ocular MotilityNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
6 Substantia Nigra Hyperintensities leads to diagnosis of Leber's Hereditary Optic NeuropathyLeber's hereditary optic neuropathy (LHON) commonly presents with acute or subacute central vision loss mimicking optic neuritis. We describe a young man who presented with bilateral sequential optic neuropathy concerning for retrobulbar optic neuritis. His MRI head, however, revealed bilateral symm...Genetic Disease; Optic Neuropathy; Neuroimaging; MiscellaneousNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
7 Lebers Hereditary Optic Neuropathy (LHON) Mimicking Neuromyelitis Optica (NMO)Lebers Hereditary Optic Neuropathy (LHON) is a mitochondrial disease marked by subacute onset optic neuropathy in one eye frequently followed by subsequent involvement of the contralateral eye.Lebers Hereditary Optic Neuropathy; Neuromyelitis OpticaNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
8 Retrolaminar Optic Nerve Enhancement on Orbital MRI in Leber's Hereditary Optic Neuropathy: Clinical and Pathophysiologic ImplicationsTo determine whether Leber's hereditary optic neuropathy (LHON) is associated with acute injury to there trolaminar optic nerve.Leber's Hereditary Optic Neuropathy; MRI; optic nerveNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
9 Leber Hereditary Optic Neuropathy in a Middle-Aged Black American Female Patient with Mutation G35356ALeber Hereditary Optic Neuropathy (LHON) is an inherited mitochondrial disorder that classically affects young males presenting with unilateral progressive optic neuropathy with sequential involvement of the fellow eye. 90% of cases are caused by 3 mitochondrial DNA (mt-DNA) mutations: G11778A, T144...Genetic Disease; Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
10 Leber's Hereditary Optic Neuropathy in a Patient with Noonan's SyndromeLeber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by delayed onset of bilateral optic neuropathy. Most patients have a point mutation in the mitochondrial DNA (mtDNA) at position 11778, although other mutations are well described.Leber's Hereditary Optic Neuropathy; Noonan's Syndrome; Bilateral Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
11 Abnormal Multifocal ERG in Leber's Hereditary Optic NeuropathyOccasionally patients with genetically confirmed Leber's hereditary optic neuropathy (LHON) demonstrate pigmentary changes in the macula. Thus, it is suggested that the retina may also manifest clinical evidence of the metabolic insult due tothe mitochondrial DNA mutation. However the clinical pheno...Leber's hereditary optic neuropathy; mfERG; retinopathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
12 Changes in Macular OCT Retinal Sublayers of Patients and Carriers in the Natural History Phase of the Leber Hereditary Optic Neuropathy G11778A Gene Therapy Clinical TrialWe determined macular retinal sublayer changes of patients and carriers with G11778A Leber hereditary optic neuropathy (LHON) by utilizing data from the natural history phase of the gene therapy trial where subjects underwent visual examination every 6 months from 2008 to 2013.Leber Hereditary Optic Neuropathy; OCT; Photoreceptor Outer SegmentNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
13 Eight Index Cases From Field Investigation in Brazil of a Giant Pedigree of Leber's Hereditary Optic NeuropathyTo present prelimary data based on eight index cases from members of a previously unstudied pedigree known to have Leber's hereditary optic neuropathy (LHON). Epidemiological, neuro-ophthalmological, psychophysical and blood examinations are summarized and subjected to multi-variant analysis on epig...Leber's Hereditary Optic Neuropathy; mitochondrial disease; genetics and epigeneticsNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
14 Erythromycin Can Precipitate the Onset of Leber's Hereditary Optic NeuropathyThe age of onset and severity of Leber's Hereditary Optic Neuropathy (LHON) are unpredictable and have beenattributed to genetic background as well as to environmental factors. Drugs that directly affect mitochondrial function can also precipitate the onset of a mitochondrial disease. The best examp...Leber's Hereditary Optic Neuropathy; erythromycinNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
15 Leber's Hereditary Optic Neuropathy...? (.pdf)Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease primarily affecting the optic nerve. Pattern electroretinogram characteristics of LHON include prominent reduction of N95 with a normal P50 component (1). Optical coherence tomography (OCT) typically shows thickening of the retina...Leber's Hereditary Optic Neuropathy, LHON, Retinal DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
16 New Onset Leber's Hereditary Optic Neuropathy in a 79 year-old maleLeber's Hereditary Optic Neuropathy (LHON) is a mitochondrial-inherited, degenerative, neuroretinal disease presenting with rapid, bilateral sequential central visual loss. LHON typically affects males in their early twenties. Few cases of late onset LHON have been reported.Leber's Hereditary Optic Neuropathy; Vision Loss; Elderly Patient; GeneticNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
17 Tobacco and Alcohol Are Not Associated with Vision Loss in Leber's Hereditary Optic Neuropathy SibshipsTo determine if tobacco or alcohol consumption is associated with vision loss among sibships harboring pathogenic mitochondrial mutations associated with Leber's Hereditary Optic Neuropathy (LHON).Vision Loss; Leber's Hereditary Optic Neuropathy Sibships; Tobacco; AlcoholNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
18 Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of MutationsLeber hereditary optic neuropathy (LHON) is a relatively rare, but highly debilitating and bilaterally blinding disease.1,2 There are three primary point mutations associated with LHON: m.3460G>A, m.11778G>A, m.14484T>C, found on the mitochondrially encoded genes of NADH-ubiquinone oxidoreductase co...Optic Neuropathy; Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
19 Myelin Oligodendrocyte Glycoprotein-Associated Optic Neuritis in a Pediatric Patient With Known Leber's Hereditary Optic NeuropathyLeber's hereditary optic neuropathy (LHON) is a genetic optic neuropathy which can cause sequential, subacute painless vision loss (1, 2). Myelin oligodendrocyte glycoprotein (MOG) associated demyelination (MOG-AD) is known to present as acute disseminated encephalomyelitis and neuromyelitis optica ...Demeylinating Disease; Genetic Disease; Pediatric Neuro-ophthalmology; Neuroimaging; Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
20 Spontaneous Recovery of Quality of Life in Leber Hereditary Optic Neuropathy with G11778A MutationLeber hereditary optic neuropathy(LHON) is characterized by progressive bilateral central vision loss leading to impaired vision related quality of life. The aim of this study is to evaluate the natural history of vision related function in daily living activities.Optic Neuropathy; Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
21 Variable presentation of Leber's hereditary optic neuropathy in a family harbouring a rare mtDNA mutationWe describe in this report 4 patients of the same familiy presented with either typical and atypical clinical picture of Leber's hereditary optic neuropathy.Optic neuropathy, Genetic Disease, Pediatric neuro-ophthalmologyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
22 A Boy with Decreased VisionA 7-year-old otherwise healthy boy complained of bilateral decreased vision. He had no other neurological or systemic symptoms.Leber Heriditary Optic Neuropathy; Magnetic Resonance Imaging; Optic Pathway GliomaNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
23 Heteroplasmy in Leber's Hereditary Optic NeuropathyLeber's hereditary optic neuropathy (LHON) is characterized by maternal transmission of mutant mitochondrial DNA. About 50% of LHON patients have a point mutation at position 11778 in the ND_4 gene. Heteroplasmy is the presence of both normal and mutant mitochondrial DNA in tissue from a given patie...Heteroplasmy; Leber's Hereditary Optic Neuropathy; Transmission; Mutant Mitochondrial DNANeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
24 Reversing Vision Loss and Preventing Optic Atrophy in Leber's Hereditary Optic NeuropathyLeber's hereditary optic neuropathy (LHON) causes profound loss of central vision and optic atrophy. A few reports exist of reversal of vision loss with idebenone or EPI-743 but almost invariably associated with optic atrophy. We report a young man presenting with central vision loss due to LHON. Vi...Leber's Hereditary Optic Neuropathy; Idebenone; Brimonidine; Phytoestrogens; VitaminsNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
25 Three Presentations of Female Relatives Affected by 11778 Mutation of Leber's Hereditary Optic Neuropathy (LHON)Three female cousins presented with unexplained vision loss. The first (19-year-old) developed acutely blurred vision OD; she kept missing the ball during soccer practices. The second (34-year-old in her second pregnancy) reported a history of optic neuritis OS after painless vision loss during her ...Optic Neuropathy, Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
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