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Filters: Collection: ehsl_novel_*
| Title | Description | Subject | Collection | ||
|---|---|---|---|---|---|
| 151 |
 |
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 Syndrome | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 152 |
 |
Are We There Yet? Is Neuro-Ophthalmology at the Cusp of a Paradigm Shift? Lessons From Leber Hereditary Optic Neuropathy: Erratum | |||
| 153 |
 |
Optic Neuropathy: A Recipe for Blindness | An 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 Nerve | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 154 |
 |
REFLECT Trial: Efficacy and Safety of Bilateral Gene Therapy for Leber Hereditary Optic Neuropathy | Leber Hereditary Optic Neuropathy (LHON) is a blinding orphan disease leading to bilateral vision loss. Lenadogene nolparvovec (rAAV2/2-ND4) is a gene therapy developed for the treatment of LHON caused by a mutation in the ND4 gene. | Genetic Disease; Optic Neuropathy; Retina | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 155 |
 |
Leber Hereditary Optic Neuropathy: Visual Recovery in a Patient With the Rare m.3890G>A Point Mutation | |||
| 156 |
 |
Assessing the Impact of Long-Term Idebenone Treatment in Chronic Leber's Hereditary Optic Neuropathy: Results from the LEROS Study | Preservation 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; Retina | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 157 |
 |
Letters to the Editor | Autonomic Fibers, Preganglionic; Humans; Magnetic Resonance Imaging; Optic Atrophy, Hereditary, Leber; Optic Chiasm; Optic Nerve; Visual Pathways; Enophthalmos; Humans; Panniculitis, Lupus Erythematosus; Choroid Diseases; Humans; Intracranial Hypertension; Pseudotumor Cerebri; Retinal Artery Occlusi... | ||
| 158 |
 |
A Multiple Sclerosis-Like Illness in a Man Harboring the mtDNA 14484 Mutation | Adult; Blindness/genetics; Brain/pathology; DNA, Mitochondrial/genetics; Humans; Magnetic Resonance Imaging; Male; Multiple Sclerosis/diagnosis; Multiple Sclerosis/genetics; Optic Atrophies, Hereditary/diagnosis; Optic Atrophies, Hereditary/genetics; Optic Nerve/pathology; Point Mutation; Spinal Cor... | ||
| 159 |
 |
High Incidence of Visual Recovery Among Four Japanese Patients with Lebers Hereditary Optic Neuropathy with the 14484 Mutation | Adolescent; Adult; DNA Mutational Analysis; DNA, Mitochondrial/genetics; Humans; Incidence; Japan/epidemiology; Male; Middle Older people; Optic Atrophies, Hereditary/complications; Optic Atrophies, Hereditary/genetics; Optic Atrophies, Hereditary/physiopathology; Point Mutation; Polymerase Chain Re... | ||
| 160 |
 |
The Photopic Negative Response as an Objective Measurement of Visual Function in Patients with Leber's Hereditary Optic Neuropathy (.pdf) | The photopic negative response (PhNR) is a slow negative component of a flash photopic full field ERG which has been shown to be specific for retinal ganglion cell (RGC) activity. Direct evaluation of RGC function is important in patients with Leber's Hereditary Optic Neuropathy (LHON) in which func... | Optic Neuropahty, Visual Fields, Diagnostic Tests | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 161 |
 |
Hereditary optic neuropathies in childhood | Knowledge of the genetic mechanisms underlying hereditary optic neuropathies has increased over the past two decades. Identified genes are mainly related to forms that begin after adolescence. However, hereditary optic neuropathies can begin from early childhood and may then exhibit specific clinica... | Optic neuropathy, Genetic Disease, Pediatric neuro-ophthalmology | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 162 |
 |
Idebenona off label- Visual improvement continuing 2 years after surgery of Meningioma with Idebenona | Describe the clinical picture of a patient with sellar meningioma, with significant compromise visual function and recovery after a period, than the one determined by various studies, under treatment with Idebenona. | Optic Neuropathy | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 163 |
 |
Assessing the Impact of Long-Term Idebenone Treatment in Subacute/Dynamic Leber's Hereditary Optic Neuropathy: Results from the LEROS Study | Preservation 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... | Optic Neuropathy; Genetic Disease; Retina | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 164 |
 |
We Can Hardly Believe Our Eyes | A 17 year old man with a history of JME and learning disability developed fatigue and right-sided numbness and weakness one month after an asymptomatic COVID infection. In the ED, he was agitated, requiring sedation. MRI brain demonstrated large, nodular, incomplete ring enhancing supratentorial whi... | Mitochondrial Disorders; Optic Neuropathy; Multiple Sclerosis (MS) | Neuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 165 |
 |
A Rare Mutation Associated With Probable Late-Onset Leber's Hereditary Optic Neuropathy | |||
| 166 |
 |
Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss. | Adult; Child; DNA, Mitochondrial; Diagnosis, Differential; Female; Fundus Oculi; Humans; Male; Middle Older people; Optic Atrophis, Hereditary; Optic Atrophy; Pedigree; Vision Disorders | ||
| 167 |
 |
Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation. | |||
| 168 |
 |
Treatment of Hereditary Optic Neuropathies | Hereditary optic nerve disorders result in significant chronic visual morbidity and the minimum prevalence of affected individuals in the population has been estimated at 1 in 10,000.1 Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two classical paradigms... | Autosomoal Dominant Optic Atrophy; Genetic Counseling; Leber Hereditary Optic Neuropathy; Mitochondrial Genetics; OPA1 | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 169 |
 |
An Epidemiological Study of LHON Using a Large International Sample of Affected Individuals | Leber's hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disease. It results in acute/subacute, painless, profound loss of central and color vision. The current literature reports males as 4-5 times more likely than females to be affected by LHON, and that symptom onset ... | Optic Neuropathy, Genetic Disease | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| 170 |
 |
Optic Disc Pseudoedema Due to Leber Hereditary Optic Neuropathy | A 23-year-old woman developed sequential painless central vision loss in both eyes (right eye 5 months ago and left eye 2 months ago). Her examination showed bilateral optic neuropathies: visual acuity: 20/300 eccentrically OU (no improvement with pinhole); pupils: equal and reactive with no relativ... | Leber Hereditary Optic Neuropathy; Optic Disc Pseudoedema; Fluorescein Angiography | Neuro-Ophthalmology Virtual Education Library - The Emory Eye Center Neuro-Ophthalmology Collection: https://novel.utah.edu/eec/ |
| 171 |
 |
Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051GA mtDNA Mutation | |||
| 172 |
 |
Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment | Leber Hereditary Optic Neuropathy; Mitochondrial DNA; Idebenone | ||
| 173 |
 |
Reactive Oxygen Species in Mitochondrial Optic Neuropathies: Comment | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu | ||
| 174 |
 |
Evaluation of Fixation Pattern and Reading Ability in Patients With Leber Hereditary Optic Neuropathy | Adaptation, Ocular; Older people; Diagnostic Techniques, Ophthalmological; Dyslexia; Fixation, Ocular; Humans; Male; Middle Older people; Ocular Motility Disorders; Optic Atrophy, Hereditary, Leber; Pilot Projects; Reading; Scanning Laser Polarimetry; Scotoma; Visual Field Tests; Young Adult | ||
| 175 |
 |
Evidence for a metabolic trigger for Leber's hereditary optic neuropathy. A case report. | Child; DNA Mutational Analysis; DNA, Mitochondrial; Diabetes Mellitus, Type 1; Female; Humans; Optic Atrophies, Hereditary; Visual Acuity |