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Title | Creator | Description | Subject |
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Hereditary Optic Neuropathy (Leber's Hereditary Optic Neuropathy) | NANOS | 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 |
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Leber's Optic Neuropathy (PowerPoint) | AAO/NANOS - American Academy of Ophthalmology / North American Neuro-Ophthalmology Society | 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 Neuropathy |
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Neuro-Ophthalmic Manifestations of Mitochondrial Disease | Abhimanyu S. Ahuja, BS; Sidney M. Gospe III, MD, PhD | Classically, mitochondrial diseases exhibit a maternal inheritance pattern because pathogenic mutations in mitochondrial DNA (mtDNA) are transmitted exclusively via the maternal lineage due to rapid degradation of sperm-derived mitochondria early in embryogenesis. However, mutations in mtDNA may occ... | Mitochondrial Disease; Pathophysiology |
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Afferent Visual Pathway Disorders: Typical vs Atypical Optic Neuritis | Carmen Chan, FRCP, FRCOphth, FRCSEd(Ophth), FHKAM(Ophthalmology) | Discussion of typical vs atypical optic neuritis. | Optic Neuritis |
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Treatment Outcomes of Ocular Manifestations in Wernicke's Encephalopathy: Images | Whitney Stuard Sambhariya PhD; Melanie Truong-Le, DO, OD | The case of a 28- year-old woman with a past medical history of gastric sleeve who was reported to have blurry vision and presented to neuro-ophthalmology with double vision. On examination the patient had bilateral abducens palsy, alternating upbeat and downbeat nystagmus with a torsional component... | Wernicke's Encephalopathy; Ocular manifestations; Neuro-ophthalmology; Sbducens palsy; Nystagmus; Double vision; Blurry vision |
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Genetic Causes of Isolated Optic Neuropathy | Kathleen Ho; Devin Mackay | Overview of isolated genetic optic neuropathies and their neuro-ophthalmic manifestations with an illustrative case example and discussion of clinical presentation, relevant biochemistry, and testing. | Genetics; Hereditary; MFN2; NDUFV1; OPA1; OPA3; Optic Atrophy; Optic Neuropathy; POLG; SPG7; WFS1 |
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Treatment Outcomes of Ocular Manifestations in Wernicke's Encephalopathy: Case Report | Whitney Stuard Sambhariya, PhD, Medical Student; Melanie Truong-Le, DO, OD | The case of a 28- year-old woman with a past medical history of gastric sleeve who was reported to have blurry vision and presented to neuro-ophthalmology with double vision. On examination the patient had bilateral abducens palsy, alternating upbeat and downbeat nystagmus with a torsional component... | Wernicke's Encephalopathy; Ocular Manifestations; Neuro-ophthalmology; Abducens Palsy; Nystagmus; Double Vision; Blurry Vision |