Leber Hereditary Optic Neuropathy
What is Leber hereditary optic neuropathy?
Leber hereditary optic neuropathy (LHON) is a condition characterized by the loss of vision in both eyes. People typically lose their sight in one eye, and visual failure in the other eye comes a few weeks after.
About one of every 50,000 people have this condition, and males are four to five times more likely to be affected by it.
What are the symptoms of Leber hereditary optic neuropathy?
Symptoms tend to appear during young adulthood, and vision is lost before the age of 40. The loss of central vision is the main symptom, as people experience blurred vision and a reduced perception of color. One eye loses vision before the other, but after a few weeks both eyes will have visual failure.
Males are more likely to experience vision loss than females who are affected by this condition.
In extremely rare cases of LHON, neurologic abnormalities are present. People may experience peripheral neuropathy, postural tremor, nonspecific myopathy, and movement disorders.
What causes Leber hereditary optic neuropathy?
Genetic mutations in mitochondrial DNA result in LHON. As mitochondria develop from ova, this condition can only be inherited maternally. This means that females can pass down the mutated gene for LHON but males cannot.
How is Leber hereditary optic neuropathy diagnosed?
Specialized visual testing is needed to diagnose LHON. A dilated fundus examination may reveal the characteristics of this condition. Genetic testing can confirm a diagnosis.
What are the treatments for Leber hereditary optic neuropathy?
Visual aids, occupational rehabilitation, and local social services are all recommended for people affected by LHON. Studies have shown that ubiquinone and idebenone can provide benefits during the acute and chronic phases.
Mitochondrial impairments have been shown to result from drinking and smoking, so it is recommended that people with LHON avoid these things.
