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{
    "pk": 35569,
    "title": "Orbital Magnetic Resonance Imaging of a 36-Year-Old Woman with Leber Hereditary Optic Neuropathy: A Case Report",
    "subtitle": null,
    "abstract": "<p>Leber hereditary optic neuropathy (LHON) is a rare disorder that results in loss of central vision. Although the initial onset of LHON is most commonly seen in patients aged 15-35 years, it may occur at any age. The disorder is more common in men than women and is known to be caused by one of three mitochondrial DNA point mutations: 11778G&gt;A, 3460G&gt;A, or 14484T&gt;C. Whereas the diagnosis of LHON is conventionally based on a patient’s clinical presentation, family history, and the results of ophthalmologic examination and genetic testing, it can significantly benefit from early contribution of neuroimaging. We report a case of LHON in a 36-year-old woman with low visual acuity and progressive worsening of vision for 7 months, a family history of LHON, and abnormal central hyperintense signal within the optic nerves on T2-weighted fat-saturated magnetic resonance imaging of the orbits. Some etiopathogenetic and neuroimaging aspects of LHON as well as challenges in diagnosis and treatment of patients with the disorder are also discussed.</p>",
    "language": null,
    "license": {
        "name": "Creative Commons Attribution 4.0",
        "short_name": "CC BY 4.0",
        "text": "Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.\n\nNo additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.",
        "url": "https://creativecommons.org/licenses/by/4.0"
    },
    "keywords": [
        {
            "word": "Leber hereditary optic neuropathy"
        },
        {
            "word": "T2-hyperintensity"
        },
        {
            "word": "optic nerve"
        },
        {
            "word": "magnetic resonance imaging of the orbit"
        }
    ],
    "section": "Case Report",
    "is_remote": true,
    "remote_url": "https://escholarship.org/uc/item/3jk076jz",
    "frozenauthors": [
        {
            "first_name": "Jamie",
            "middle_name": "E",
            "last_name": "Clarke",
            "name_suffix": "",
            "institution": "David Geffen School of Medicine at UCLA",
            "department": "Department of Radiological Sciences"
        },
        {
            "first_name": "Samuel",
            "middle_name": "",
            "last_name": "Cohen",
            "name_suffix": "",
            "institution": "David Geffen School of Medicine at UCLA",
            "department": "Department of Ophthalmology"
        },
        {
            "first_name": "Jay",
            "middle_name": "",
            "last_name": "Acharya",
            "name_suffix": "",
            "institution": "David Geffen School of Medicine at UCLA",
            "department": "Department of Radiological Sciences"
        }
    ],
    "date_submitted": "2024-09-06T12:53:58-04:00",
    "date_accepted": "2025-06-06T14:24:50.295000-04:00",
    "date_published": "2025-09-03T01:27:00-04:00",
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        "type": "pdf",
        "path": "https://journalpub.escholarship.org/ucla_rsp/article/35569/galley/38836/download/"
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}