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Filters: Collection: ehsl_novel_*
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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 Segment | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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Fool Me Once Shame on You, Fool Me Twice and I'm the Fool | Optic Atrophy, Hereditary, Leber | Neuro-Ophthalmology Virtual Education Library - Walsh Session Annual Meeting Archives https://novel.utah.edu/Walsh/index3.html | |
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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; LHON | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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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 Brochure | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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I Can't Read | DNA, Mitochondrial; Optic Atrophy, Hereditary, Leber; Scotoma; Hyperemia | Neuro-Ophthalmology Virtual Education Library - Walsh Session Annual Meeting Archives https://novel.utah.edu/Walsh/index3.html | |
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Leber Hereditary Optic Neuropathy: from Bedside to Bench to Bedside | This 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 Therapy | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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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 Recovery | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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It's Not the Tumor | Vision Loss; Leber Hereditary Optic Neuropathy; Radiation Therapy | Neuro-Ophthalmology Virtual Education Library - Walsh Session Annual Meeting Archives https://novel.utah.edu/Walsh/index3.html | |
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Its Not the Tumor | Vision Loss; Leber Hereditary Optic Neuropathy; Radiation Therapy | Neuro-Ophthalmology Virtual Education Library - Walsh Session Annual Meeting Archives https://novel.utah.edu/Walsh/index3.html | |
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Leber Hereditary Optic Neuropathy | Summary: • 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; Neuropathy | Neuro-Ophthalmology Virtual Education Library: Andrew G. Lee Collection: https://novel.utah.edu/Lee/ |
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Mitochondrial Translation Optimizer-1 Mutation as a Cause of Hereditary Optic Neuropathy | Mitochondrial 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 Motility | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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Substantia Nigra Hyperintensities leads to diagnosis of Leber's Hereditary Optic Neuropathy | Leber'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; Miscellaneous | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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Leber's Hereditary Optic Neuropathy | Images and visual fields from a boy with acute visual loss. | Leber's Optic Neuropathy | Neuro-Ophthalmology Virtual Education Library - The Moran Eye Center Neuro-Ophthalmology Collection: https://novel.utah.edu/Moran/ |
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Atypical Leber Hereditary Optic Neuropathy: 18 Year Interval Between Eyes | Biomedical Research; Databases, Factual; Eye Diseases; Humans; Neurology; Ophthalmology; Registries | Neuro-Ophthalmology Virtual Education Library - Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ | |
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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 Optica | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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Retrolaminar Optic Nerve Enhancement on Orbital MRI in Leber's Hereditary Optic Neuropathy: Clinical and Pathophysiologic Implications | To 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 Nerve | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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Leber Hereditary Optic Neuropathy in a Middle-Aged Black American Female Patient with Mutation G35356A | Leber's 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, T1... | Genetic Disease; Optic Neuropathy | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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Late-Onset Lebers Hereditary Optic Neuropathy | Older 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 | Neuro-Ophthalmology Virtual Education Library - Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ | |
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A Boy with Decreased Vision | A 7-year-old otherwise healthy boy complained of bilateral decreased vision. He had no other neurological or systemic symptoms. | Leber Hereditary Optic Neuropathy; Magnetic Resonance Imaging; Optic Pathway Glioma | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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Magnetic Resonance Findings in the Pregeniculate Visual Pathways in Leber Hereditary Optic Neuropathy | Autonomic Fibers, Preganglionic; Genetic Predisposition to Disease; Humans; Magnetic Resonance Imaging; Male; Middle Older people; Optic Atrophy, Hereditary, Leber; Optic Nerve; Visual Pathways; Young Adult | Neuro-Ophthalmology Virtual Education Library - Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ | |
| 21 |
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Leber Hereditary Optic Neuropathy- Some New Observations | Autonomic 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 | Neuro-Ophthalmology Virtual Education Library - Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ | |
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Vision Loss and Symmetric Basal Ganglia Lesions in Leber Hereditary Optic Neuropathy | Adult; Basal Ganglia; Blindness; Disease Progression; Female; Humans; Magnetic Resonance Imaging; Optic Atrophy, Hereditary, Leber; Optic Chiasm; Optic Nerve; Visual Acuity | Neuro-Ophthalmology Virtual Education Library - Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ | |
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Leber's Hereditary Optic Neuropathy in a Patient with Noonan's Syndrome | Leber'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 Neuropathy | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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Thickening of Retinal Nerve Fiber Layer Observed in a Patient with Leber's Hereditary Optic Neuropathy | To verify the increase of thickness of the retinal nerve fiber layer (RNFL) during the acute phase of Leber's hereditary optic neuropathy (LHON). | Retinal Nerve Fiber Layer; Leber's Hereditary Optic Neuropathy; Optical Coherence Tomography | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
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Abnormal Multifocal ERG in Leber's Hereditary Optic Neuropathy | Occasionally 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 to the mitochondrial DNA mutation. However the clinical phen... | Leber's Hereditary Optic Neuropathy; mfERG; Retinopathy | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |