Work

Orbital Magnetic Resonance Imaging of a 36-Year-Old Woman with Leber Hereditary Optic Neuropathy: A Case Report

Year: 2025

Type: article

Abstract: 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>A, 3460G>A, or 14484T>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.

Source: The UCLA Radiological Science Proceedings

DOI: 10.5070/rs4.35569

Authors: Jamie E Clarke, Samuel Cohen, Jay Acharya

Institution: University of California, Los Angeles

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4413966723