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Findings on magnetic resonance imaging (MRI) of the brain and orbits are typically normal in patients with Leber hereditary optic neuropathy (LHON). We describe 2 patients with LHON who had abnormalities of the optic nerves and chiasm disclosed by MRI.
Case 1. A 7-year-old boy had subacute painless decline in vision in both eyes in the middle of July 1999. An evaluation by a local ophthalmologist on August 23, 1999, revealed a visual acuity of 20/60 OD and 20/300 OS. Findings from the remainder of the examination were reportedly normal and the patient was given the diagnosis of functional visual loss. He was otherwise healthy with no other neurologic or systemic symptoms and no medical illnesses. Family history was unremarkable for ophthalmologic or neurologic disease.
Phillips PH, Vaphiades M, Glasier CM, Gray LG, Lee AG. Chiasmal Enlargement and Optic Nerve Enhancement on Magnetic Resonance Imaging in Leber Hereditary Optic Neuropathy. Arch Ophthalmol. 2003;121(4):577–579. doi:https://doi.org/10.1001/archopht.121.4.577
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