Eccles Health Sciences Library
 
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1 Fool Me Once Shame on You, Fool Me Twice and I'm the FoolOptic Atrophy, Hereditary, LeberNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
2 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 Trial"We 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
3 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
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 "I Can't Read"DNA, Mitochondrial; Optic Atrophy, Hereditary, Leber; Scotoma; HyperemiaNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
6 Hereditary Optic Neuropathy (Leber's Hereditary Optic Neuropathy)Hereditary Optic Neuropathy - A hereditary optic neuropathy is caused by a genetic variant (or mutation) that causes dysfunction of the neurons (nerve cells) which form the optic nerve. The optic nerve sends information from the back of the eye to the vision center in the brain.The two most common t...Hereditary Optic Neuropathy; Patient BrochureNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
7 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
8 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
9 Leber Hereditary Optic NeuropathySummary: • Leber Hereditary Optic Neuropathy: mitochondrially inherited o Does not manifest at birth, typically presents in young adult male patient o Unclear why males more affected than females who also inherit maternal mitochondrial deletion -Possible exogenous factors i.e. Nuclear cofactor, ho...Mitochondrial; Genetic; NeuropathyNeuro-Ophthalmology Virtual Education Library: Andrew G. Lee Collection: https://novel.utah.edu/Lee/
10 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
11 Leber's Hereditary Optic NeuropathyImages and visual fields from a boy with acute visual loss.Leber's Optic NeuropathyNeuro-Ophthalmology Virtual Education Library - The Moran Eye Center Neuro-Ophthalmology Collection: https://novel.utah.edu/Moran/
12 Atypical Leber Hereditary Optic Neuropathy: 18 Year Interval Between EyesBiomedical Research; Databases, Factual; Eye Diseases; Humans; Neurology; Ophthalmology; RegistriesNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
13 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
14 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
15 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
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 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
18 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
19 Late-Onset Lebers Hereditary Optic NeuropathyOlder people; DNA Mutational Analysis; Humans; Male; Optic Atrophies, Hereditary/diagnosis; Optic Atrophies, Hereditary/genetics; Point Mutation; Vision Disorders/diagnosis; Vision Disorders/genetics; Visual Acuity; Visual Fields
20 Magnetic Resonance Findings in the Pregeniculate Visual Pathways in Leber Hereditary Optic NeuropathyAutonomic Fibers, Preganglionic; Genetic Predisposition to Disease; Humans; Magnetic Resonance Imaging; Male; Middle Older people; Optic Atrophy, Hereditary, Leber; Optic Nerve; Visual Pathways; Young Adult
21 Leber Hereditary Optic Neuropathy- Some New ObservationsAutonomic Fibers, Preganglionic; Brachial Plexus Neuropathies; Brachial Plexus Neuropathies; Female; Humans; Magnetic Resonance Imaging; Male; Optic Atrophy, Hereditary, Leber; Optic Nerve; Peripheral Nervous System Diseases; Visual Pathways
22 Vision Loss and Symmetric Basal Ganglia Lesions in Leber Hereditary Optic NeuropathyAdult; Basal Ganglia; Blindness; Disease Progression; Female; Humans; Magnetic Resonance Imaging; Optic Atrophy, Hereditary, Leber; Optic Chiasm; Optic Nerve; Visual Acuity
23 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
24 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
25 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
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