Eccles Health Sciences Library
 
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176 Treatment of Hereditary Optic NeuropathiesHereditary 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; OPA1Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
177 We Can Hardly Believe Our EyesA 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
178 Difficulties in Interpreting Optic Disc Fluorescein Leakage in Lebers Hereditary Optic NeuropathyCapillary Permeability; Fluorescein; Fluorescein Angiography/methods; Fluoresceins/diagnostic use; Fundus Oculi; Humans; Image Interpretation, Computer-Assisted; Optic Atrophies, Hereditary/diagnosis; Optic Disk/blood supply
179 Cuban epidemic optic neuropathy.Cuba/Epidemiology; DNA Mutational Analysis; Mitochondrial DNA; Disease Outbreaks; Female; Humans; Male; Mutation; Optic Atrophies, Hereditary/Epidemiology; Optic Atrophies, Hereditary/Etiology; Optic Atrophies; Hereditary/Genetics; Optic Nerve Diseases/Epidemiology; Optic Nerve Diseases/Etiology; Op...
180 Combinations of Polymorphic Mitochondrial DNA Variants Cause Leber's Hereditary Optic NeuropathyLeber's hereditary optic neuropathy (LHON) is traditionally associated with primary mitochondrial DNA (mtDNA) mutations exerting the role of a necessary but not sufficient genetic factor for disease. A few families segregating LHON along the maternal line lack a primary mtDNA pathogenic mutation, po...Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
181 Differential Diagnosis - Tempo in History TakingSummary: • Differential Diagnosis-VINDITCH MD o Consider the tempo of pathology: > Vascular > Ischemic • NAION o Patient gets worse, then stays the same, or a little better then stays the same > Neoplastic • Optic Nerve Sheath Meningioma o Patient gets worse, then continues to get worse > Demy...Differential Diagnosis; Tempo; PathologyNeuro-Ophthalmology Virtual Education Library: Andrew G. Lee Collection: https://novel.utah.edu/Lee/
182 Indirect Comparison of Lenadogene Nolparvovec Gene Therapy versus Natural History in m.11778G>A MT-ND4 Leber Hereditary Optic Neuropathy PatientsLenadogene nolparvovec is a promising gene therapy for patients with Leber hereditary optic neuropathy (LHON) due to the m.11778G>A MT-ND4 mutation. The purpose of this analysis was to compare the visual acuity of MT-ND4 LHON patients treated with lenadogene nolparvovec in clinical studies to the sp...Optic Neuropathy; Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
183 Use of Lenadogene Nolparvovec Gene Therapy for Leber Hereditary Optic Neuropathy in Early Access ProgramsLenadogene nolparvovec is a novel, as yet unapproved, gene therapy for patients with Leber hereditary optic neuropathy (LHON) due to the m.11778G>A ND4 mutation. Through early access programs, patients with ND4-LHON can benefit from lenadogene nolparvovec.Optic Neuropathy; Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
184 Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy
185 Stargardts Type Maculopathy in a Patient with 11778 Lebers Optic NeuropathyAdolescent; DNA Mutational Analysis; DNA, Mitochondrial/genetics; Fluorescein Angiography; Fundus Oculi; Humans; Macular Degeneration/diagnosis; Macular Degeneration/genetics; Macular Degeneration/physiopathology; Male; Optic Atrophies, Hereditary/diagnosis; Optic Atrophies, Hereditary/genetics; Opt...
186 Clinical Trials of Neuro-Ophthalmic Interest (abstract)2016 was a good year for clinical trials of interest to neuroophthalmologists. In this syllabus, I will discuss final or preliminary results from five treatment trials dealing with four disorders: primary pseudotumor cerebri syndrome (n=1), leber hereditary optic neuropathy (n=2), giant cell (tempor...Pseudotumor Cerebri Syndrome, Leber Hereditary Optic Neuropathy, Optic Pathway Glioma, Giant Cell Arteritis, TocilizumabNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
187 Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation.
188 Subject Index
189 Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation.Adolescent; Child; DNA, Mitochondrial; Female; Humans; Male; Middle Older people; Mutation; Optic Atrophies, Hereditary; Remission, Spontaneous; Vision Disorders; Visual Acuity; Visual Fields
190 Assessing the Impact of Idebenone in Leber's Hereditary Optic Neuropathy According to Primary Mitochondrial DNA Mutation: Results From the LEROS StudyIn LEROS, visual acuity (VA) outcomes following 24 months of idebenone treatment were compared to an external, matched, natural history (NH) cohort. Here, we report VA outcome results from LEROS according to primary mitochondrial DNA (mtDNA) mutation.Genetic Disease; Optic Neuropathy; RetinaNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
191 Evaluation of visual field metrics in patients with central scotomas from LHONPatients with large dense central scotomas may be unable to reliably complete Stimulus size III (Stim III) Humphrey Visual Fields (HVF). These patients, however, do considerably better with Stimulus size V (Stim V) HVF. In Leber's Hereditary Optic Neuropathy (LHON) the reliability of the HVF varies ...Visual Fields; Perimetry; Genetic Disease; Optic Neuropathy; Demeylinating DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
192 Severe Leber Hereditary Optic Neuropathy Plus Disease in a Middle-Aged ManLHON; NLP; Bilateral Optic Neuropathy
193 Images in Neuro-Ophthalmology
194 Lebers Hereditary Optic Neuropathy (LHON)LHON: Subacute-usually irreversible--visual loss affecting both eyes sequentially and sometimes simultaneously; Caused by a mitochondrial mutation usually at positions 11778, 3460, 14484, or 14459; Transmitted maternally (because the mother provides the mitochondria)Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
195 Images in Neuro-Ophthalmology
196 Leber's Hereditary Optic Neuropathy: A Very Large New Pedigree From BrazilFour slides showing optic disc with LHON. Anatomy: Optic nerve; Optic disk. Disease/Diagnosis: Optic Atrophy, Hereditary, Leber. Presenting Symptom: Blindness.Optic Atrophy; Hereditary; Leber; Blindness; Brazil; Optic Nerve; Optic DiscNeuro-Ophthalmology Virtual Education Library - Alfredo A. Sadun Neuro-Ophthalmology Collection: https://novel.utah.edu/Sadun/
197 Leber's Hereditary Optic Neuropathy: New Insights?Several microscopic images of optic nerve with LHON. Anatomy: Optic nerve. Disease/Diagnosis: Optic Atrophy, Hereditary, Leber. Presenting Symptom: Scotoma; Dyschromatopsia.Optic Atrophy, Hereditary, Leber; Optic nerve; Scotoma; DyschromatopsiaNeuro-Ophthalmology Virtual Education Library - Alfredo A. Sadun Neuro-Ophthalmology Collection: https://novel.utah.edu/Sadun/
198 Prophylaxis for Second Eye Involvement in Leber's Hereditary Optic Neuropathy: A Multicenter Trial of Topical Brimonidine PuriteOptic Atrophy, Hereditary, Leber; BrimonidineNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
199 Walsh & Hoyt: Leber's Optic NeuropathyIn 1871, Leber first described the disease that bears his name, although similar cases were reported 50 years earlier.Leber's Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
200 Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy.Adult; Cuba/Epidemiology; Mitochondrial DNA; Disease Outbreaks; Electron Transport Complex IV/Genetics; Female; Haplotypes; Humans; Male; Middle Older people; Genetic Mutation; Optic Atrophies, Hereditary/Epidemiology; Optic Atrophies, Hereditary/Genetics; Optic Nerve Diseases/Epidemiology; Optic Ne...
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