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Abstract Details

Atypical Presentation of Leber’s Hereditary Optic Neuropathy
P6 - Poster Session 6 (12:00 PM-1:00 PM)

LHON is the most common primary mitochondrial disorder and the second most common cause of inherited optic neuropathy. Prevalence is estimated as 1 in 35,000. LHON typically presents in the second or third decade of life with acute, painless, monocular central vision loss, subsequently involving the other eye in 2-4 months. LHON follows a mitochondrial inheritance pattern, typically maternally inherited. Males have a significantly higher risk, with up to 50% of carriers becoming blind, compared to only 10% of female carriers.

We describe the case of a 17 year old male who presented with acute vision loss, incidentally found to have a sellar mass, delaying his diagnosis of Leber’s Hereditary Optic Neuropathy (LHON).  


A 17-year-old male with no significant family history presented with sudden decline in visual acuity of his left eye. Initial MRI showed a sellar mass with mild compression of the optic chiasm. The patient was referred to neurosurgery for surgical evaluation, and ophthalmology for left optic nerve atrophy secondary to compression. Approximately 2 months later, he presented with progressive loss of vision in the left eye and worsening vision in his right eye. He was admitted to neurosurgery for surgical management. On repeat MRI, there was no compression on the optic chiasm with diagnosis of benign Rathke’s cleft cyst. Pediatric Neurology was involved to rule out inflammatory or demyelinating process. He was treated with 5-day course of IV steroids with no improvement in vision. Given progressive decline of bilateral vision, negative inflammatory workup, and no response to steroids, genetic testing for LHON was sent, which ultimately returned positive.

LHON is an important diagnosis to consider in adolescent males who present with progressive vision loss, even with no family history. Signs and symptoms may mimic more common ophthalmic disorders, such as optic nerve compression or inflammatory conditions.

Sara Rubenstein, MD (Hackensack Meridian Health)
Dr. Rubenstein has nothing to disclose.
Asif *use 295903 Hilmi, MD No disclosure on file
Xue Ming, MD (Dept of Neurosciences) Dr. Ming has nothing to disclose.