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1 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
2 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/
3 Preliminary Safety and Tolerability Results Of A Recombinant Adeno-Associated Viral Vector Serotype 2 (Raav2/2) Containing the Human Wild-Type Mitochondrial NADH Dehydrogenase 4 (ND4) Gene, in Patients with Leber Hereditary Optic Neuropathy Due to the G11778A Mitochondrial DNA Mutation (Video)Our goal is to report the results of a first-in-man safety trial of gene therapy in patients with Leber Hereditary Optic Neuropathy (LHON).Leber Hereditary Optic Neuropathy, Mitochondrial Genetic Disorder, Gene Therapy, Adeno Associated Viral Vector, Safety and Tolerability TrialNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
4 Clinical Trials of Neuro-Ophthalmic Interest (video)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
5 Steroids Are Not Always the Solution!!Leber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disorder and typically affects young males. (https://eyewiki.aao.org/Leber_Hereditary_Optic_Neuropathy)Leber Hereditary Optic Neuropathy (LHON)Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
6 It's Not the TumorVision Loss; Leber Hereditary Optic Neuropathy; Radiation TherapyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
7 Leber's Hereditary Optic Neuropathy in WomenLeber's hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by selective degeneration of retinal ganglion cells with significant gender bias and incomplete penetrance. We aimed at refining the characteristics of LHON in women.Genetic Disease; Neuro-ophth & Systemic Disease (eg. MS, MG, Thyroid); Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
8 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
9 Optic Neuropathy: A Recipe for BlindnessAn 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 NerveNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
10 REFLECT Trial: Efficacy and Safety of Bilateral Gene Therapy for Leber Hereditary Optic NeuropathyLeber 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; RetinaNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
11 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
12 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/
13 Bilateral Visual Improvement with Unilateral Gene Therapy for Leber Hereditary Optic Neuropathy (LHON) (Video)Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
14 Expanded Access Program (EAP) in Leber's Hereditary Optic Neuropathy (LHON) Patients Treated for 24 Months (Video)LHON is a mitochondrial genetic disorder resulting in severe bilateral central VA loss. Three primary mitochondrial DNA mutations cause over 90% of cases. Data from idebenone EAP for patients with LHON receiving treatment for at least 24 months were analyzed to assess rate of clinically-relevant rec...Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
15 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
16 Pediatric Optic Neuritis (video)Pediatric optic neuritis differs from adult optic neuritis because the condition in children is commonly bilateral,; associated with optic disc swelling, and characterized by severe vision loss. The risk of developing multiple sclerosis (MS) is related to the presence of white matter lesions in the ...Pediatric Optic Neuritis, Multiple Sclerosis, Anti-MOG Antibodies, Acute Disseminated Encephalomyelitis (ADEM), NMO Spectrum DisorderNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
17 Retrograde Transport to Retinal Ganglion Cells: An Alternative Strategy for Gene Delivery in Optic NeuropathiesThe internal limiting membrane represents a major obstacle to successful transduction of retinal ganglion cells by adeno-associated virus (AAV) for treatment of Leber's hereditary optic neuropathy. Recombinant AAV2-retro is a variant of AAV serotype 2 developed explicitly for retrograde transport. I...Genetic Disease; Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
18 An Epidemiological Study of LHON Using a Large International Sample of Affected IndividualsLeber'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 DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
19 Clinical Features of OPA1-Related Optic Neuropathy: A Focus on Genetic Modifiers (Video)Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy, and known mutations in OPA1 account for 40-60% of cases. Previous studies investigating clinical features in DOA patients with OPA1 mutations have been limited to a few mutations and few include OPA1 copy number variant (CN...Genetic Disease, Optic Neuropathy, Visual FieldsNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
20 Mitochondrial Optic Neuropathies - Expanding Genotypes and PhenotypesMitochondrial Optic Neuropathies (MON) are a genetically and phenotypically diverse group of diseases. Despite the different genetic causes, there is considerable phenotypic overlap which makes distinguishing one mutation from another solely based on clinical presentation difficult. Moreover, clinic...Leber Hereditary Optic Neuropathy Plus Syndromes; Harding's Disease; Autosomal Hereditary Optic Neuropathies; Leigh Syndrome; Charles Bonnet SyndromeNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
21 Assessment of rAAV2/2-ND4 Gene Therapy Efficacy in LHON Using an External Control GroupThe two Phase-3 multi-center clinical trials RESCUE and REVERSE showed sustained bilateral improvement of best-corrected visual acuity (BCVA) following unilateral injection of rAAV2/2-ND4 gene therapy for Leber Hereditary Optic Neuropathy (LHON). This bilateral treatment effect was compared to an ex...Optic Neuropathy; Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
22 Myopathies and Cerebral DysfunctionMitochondrial dysfunction accounts for an ever-increasing number of ophthalmologic and neurologic disorders that frequently affect the central nervous system and skeletal muscle (encephalomyopathies). Of relevance to neuro-ophthalmologists, these disorders often present with optic neuropathy, pigmen...Mitochondrial Disease; Exercise Intolerance; Chronic Progressive External Ophthalmoplegia; Ragged-red FibersNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
23 Histopathological and Molecular Characterization in Ocular Post-Mortem Analyses Following AAV2 Gene Therapy for LHONLenadogene nolparvovec (AAV2-ND4) is a novel AAV2 gene therapy for patients with Leber hereditary optic neuropathy (LHON) carrying the m.11778G>A ND4 mutation. As demonstrated by the RESTORE five-year follow-up study of RESCUE and REVERSE, and the recent therapy/therapy versus therapy/placebo bilate...Optic Neuropathy; Genetic DiseaseNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
24 Metabolomic and Biomarker Profiling in Mitochondrial Optic Neuropathies (video)Mitochondrial optic neuropathies constitute an important cause of registrable blindness in both the paediatric and adult population. The two classical paradigms are Leber hereditary optic neuropathy (LHON), which is a primary mitochondrial DNA (mtDNA) disorder, and autosomal dominant optic atrophy (...Genetic Disease; Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
25 Pupil Reaction in NLP Eye! Real or Fake?Summary: • Patient presented with a sluggish light reaction in the right pupil despite being no light perception in the right eye • The sluggish pupillary reaction to light could either be a true or false finding o If false, most commonly due to inadvertently testing the near reaction instead of...Pupil; NLP; Dilation; ConstrictionNeuro-Ophthalmology Virtual Education Library: Andrew G. Lee Collection: https://novel.utah.edu/Lee/
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