Leber's Hereditary Optic Neuropathy

Also known as: LHON, Leber's optic atrophy, Leber's optic neuropathy.

What is Leber's hereditary optic neuropathy?

Leber's hereditary optic neuropathy is an inherited form of blindness. Usually occurring in adolescent or older males, rare cases may start early in childhood.
 

What causes Leber's hereditary optic neuropathy? 

LHON is caused by 3 genetic mutations in the maternal mitochondrial DNA. It can only be inherited from a female, with all her children carrying the genetic abnormality and sons and daughters being equally affected.
 

What are the symptoms of Leber's hereditary optic neuropathy?

The acute phase presents with loss of central vision, with blurring and color perception difficulties. One eye is usually first affected followed a few months later by the other eye. Over time, with the optic nerve being destroyed, lifelong blindness occurs. Most female carriers do not lose vision but half of the males do.
 

What are Leber's hereditary optic neuropathy care options? 

As there is no cure for Leber's hereditary optic neuropathy, children and families need supportive management, social services, and avoidance of substances that stress the mitochondria like alcohol and smoking. Treatments involve visual aids and occupational therapy. Some newer drugs may potentially be of benefit during the acute phase of the disease.


Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 3/23/2018 2:13:26 PM

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