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Subspecialties Basic & Translational Research, Retina

A Mother's Son

Leber’s hereditary optic neuropathy (LHON) is a maternally inherited disorder caused by a point mutation in the mitochondrial DNA. It most often presents with rapid sequential bilateral loss of vision over weeks to months, with the second eye involved in 97 percent of patients by one year from onset. Patients are typically between 15 and 35 years of age, and 80 percent are men. Over 90 percent of patients are left legally blind, with less than 20/200 vision. The most common mutation in LHON patients is at the 11,778 position of the mitochondrial genome in the ND4 gene, accounting for 70 percent of patients. 

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About the Author

Phoebe Harkin

Associate Editor of The Ophthalmologist

I’ve always loved telling stories. So much so, I decided to make a job of it. I finished a Masters in Magazine Journalism and spent three years working as a creative copywriter before itchy feet sent me (back)packing. It took seven months and 13 countries, but I’m now happily settled on The Ophthalmologist, where I’m busy getting stuck into all things eyeballs.

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