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76 Leber's Optic Neuropathy (PowerPoint)Several Primary Mutations result in Leber's hereditary optic neuropathy, including mitochondrial deletions at positions 11778, 3460, and 14484. Although the 11778 is the most common mutation, the 11484 has the best prognosis for spontaneous recovery. This case exhibits the 3460 mutation.Leber's Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
77 Long Term Treatment of Lebers Hereditary Optic Neuropathy With Idebenone"Lebers hereditary optic neuropathy (LHON) has classically been viewed as a non-treatable disease. However, recently there have been several publications, including case reports, retrospective and prospective studies, which document visual improvement with the use of Idebenone. We report a case of L...Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
78 Thickening of Retinal Nerve Fiber Layer Observed in a Patient with Leber's Hereditary Optic NeuropathyRetinal Nerve Fiber Layer; Leber's Hereditary Optic Neuropathy; Optical Coherence TomographyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
79 Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations
80 Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations
81 Lack of Differences Among Mitochondrial DNA in Family Members with Lebers Hereditary Optic Neuropathy and Differing Visual OutcomesAdult; Older people; Alcohol Drinking; Benzoquinones/therapeutic use; Child; DNA, Mitochondrial/analysis; DNA, Mitochondrial/genetics; Female; Humans; Male; Middle Older people; Mutation; Optic Atrophies, Hereditary/drug therapy; Optic Atrophies, Hereditary/genetics; Optic Atrophies, Hereditary/phys...
82 Atypical cases of Leber Hereditary Optic NeuropathyTo report atypical cases of Leber hereditary optic neuropathy (LHON)Optic Neuropathy; Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
83 Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic NeuropathyLeber's Hereditary Optic Neuropathy is a mitochondrial disease characterized by sudden and profound vision loss in both eyes. Elamipretide is has been demonstrated to colocalize with cardiolipin in the inner membrane of mitochondria, where it is thought to improve mitochondrial bioenergetics. The pu...Optic Neuropathy; Genetic DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
84 Infantile presentation of Leber's hereditary optic neuropathy ‘plus' diseaseLeber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease most often leading to bilateral centroceccal scotoma secondary to preferential loss of papillomacular bundle nerve fibers. Clinical studies suggest that LHON may; be a systemic disease (‘plus' disease) occas...Genetic Disease, Optic neuropathy, Pediatric neuro-ophthalmologyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
85 Neurological findings in patients with Leber's Hereditary Optic NeuropathyExtra-ocular manifestations in Leber's Hereditary Optic Neuropathy (LHON) are commonly referred to as LHON "Plus" syndrome. Neurologic anomalies, such as dystonia, peripheral neuropathy, myoclonus and myopathy have been reported in LHON and linked to specific mitochondrial mutations. We aimed to des...Optic Neuropathy; Genetic Disease; Neuro-Ophth & Systyemic Disease (eg. MS, MG, Thyroid), Demeylinating DiseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
86 Nuclear Mitochondrial DNA Mutation Causing a Leber Hereditary Optic Neuropathy Phenotypic ExpressionLeber hereditary optic neuropathy (LHON) is associated with mutations of the mitochondrial (mt) DNA. The most common point mutations are positions 11778, 3460, and 14484 of subunit ND4, ND1 and ND6, respectively resulting in mitochondrial complex 1 deficiency. We report the first known case of a LHO...Genetic diseaseNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
87 Test Your Knowledge - Disorders of Vision - Case 19Test your knowledge of vision disorders.Vision DisordersNeuro-Ophthalmology Virtual Education Library NOVEL: Test Your Knowledge: http://NOVEL.utah.edu
88 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."Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
89 Characterization of Leber's Hereditary Optic Neuropathy Patients Treated with Idebenone"There is conflicting data regarding the efficacy of Idebenone as a treatment for Leber's Hereditary Optic Neuropathy (LHON) [1, 2]. Klopstock et al. did not find a significant increase in recovery of BCVA in patients treated with Idebenone while Carelli et al. did (from off-chart (<20/400) to on-ch...Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
90 Isolated Optic Neuritis/NeuropathySeveral Primary Mutations result in Leber's hereditary optic neuropathy, including mitochondrial deletions at positions 11778, 3460, and 14484. Although the 11778 is the most common mutation, the 11484 has the best prognosis for spontaneous recovery. This case exhibits the 3460 mutation.Leber's Optic NeuropathyNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
91 Optic Nerve Hypoplasia in Autosomal Dominant Optic AtrophyAutosomal dominant optic atrophy (ADOA) is the most common hereditary optic neuropathy, due to retinal ganglion cells degeneration. Fundoscopy discloses typically temporal optic disc palor and triangular excavation.dominant optic atrophy; hereditary optic neuropathy; optic nerve hypoplasiaNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
92 Leber's Hereditary Optic Neuropathy Phenotype in a Male Adolescent with Paternally Transmitted Autosomal NSUN3 MutationLeber's hereditary optic neuropathy (LHON) is clinically characterized by subacute progressive vision impairment and optic nerve atrophy in both eyes without other symptoms. After the initial visual decline, some patients show a recovery of visual function either spontaneously, or more often treatme...Genetic Disease, Optic NeuropathyNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
93 Magnetic Resonance Imaging Findings in the Pregeniculate Visual Pathway in Leber Hereditary Optic Neuropathy
94 Clinical and Optic Disc Characteristics of Patients Showing Visual Recovery in Leber Hereditary Optic Neuropathy
95 Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic NeuropathyAdolescent; Adult; Antioxidants; Color Perception; Double-Blind Method; Female; Humans; Male; Middle Older people; Optic Atrophy, Hereditary, Leber; Pigmentation Disorders; Skin Diseases, Genetic; Treatment Outcome; UbiquinoneNeuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
96 Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic NeuropathyAdolescent; Adult; Antioxidants; Color Perception; Double-Blind Method; Female; Humans; Male; Middle Older people; Optic Atrophy, Hereditary, Leber; Pigmentation Disorders; Skin Diseases, Genetic; Treatment Outcome; Ubiquinone
97 Isolated Optic Neuritis/NeuropathySeveral Primary Mutations result in Leber's hereditary optic neuropathy, including mitochondrial deletions at positions 11778, 3460, and 14484. Although the 11778 is the most common mutation, the 11484 has the best prognosis for spontaneous recovery. This case exhibits the 3460 mutation.Leber's Optic NeuropathyNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
98 Isolated Optic Neuritis/NeuropathySeveral Primary Mutations result in Leber's hereditary optic neuropathy, including mitochondrial deletions at positions 11778, 3460, and 14484. Although the 11778 is the most common mutation, the 11484 has the best prognosis for spontaneous recovery. This case exhibits the 3460 mutation.Leber's Optic NeuropathyNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
99 Isolated Optic Neuritis/NeuropathySeveral Primary Mutations result in Leber's hereditary optic neuropathy, including mitochondrial deletions at positions 11778, 3460, and 14484. Although the 11778 is the most common mutation, the 11484 has the best prognosis for spontaneous recovery. This case exhibits the 3460 mutation.Leber's Optic NeuropathyNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
100 Isolated Optic Neuritis/NeuropathySeveral Primary Mutations result in Leber's hereditary optic neuropathy, including mitochondrial deletions at positions 11778, 3460, and 14484. Although the 11778 is the most common mutation, the 11484 has the best prognosis for spontaneous recovery. This case exhibits the 3460 mutation.Leber's Optic NeuropathyNeuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
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