MRI Findings in Leber’s Hereditary Optic Neuropathy: A case report

Background: Leber’s hereditary optic neuropathy (LHON) is a rare genetic condition which is mainly presented with painless, sub-acute central unilateral vision loss followed by contralateral vision loss after few weeks to months. Young adults are typically affected with men preponderance. Relatively, it is a common cause of blindness as a result of mutation in mitochondrial DNA (mtDNA). Case report: We reported the case of two brothers, who had recent history of vision loss. Fundoscopy examination revealed bilateral optic nerve atrophy along with vessel narrowing and absent macular reflex. We performed MRI bilateral orbits with contrast which revealed abnormal signals and atrophy of the optic nerves suggesting optic neuritis. Conclusion: Whenever young males develop bilateral sequential vision loss with a positive family history, the diagnosis of Leber’s hereditary optic neuropathy should be suspected. Ophthalmological examination may reveal signs suggestive of Leber’s hereditary optic neuropathy. MRI may demonstrate edema signals in both optic nerve along with thinning of nerve fibers suggesting nerve atrophy. MRI is considered an useful tool to show optic nerve abnormality and optic neuritis.