UCLA Radiological Sciences Proceedings

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.