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Leber's Hereditary Optic Neuropathy

Also known as: Leber's Optic Atrophy, Leber's Optic Neuropathy

Overview

Leber's Hereditary Optic Neuropathy (LHON) is a rare genetic condition that causes loss of central vision. The optic nerve, the 'information cable', joining the eye to the brain is affected in males more commonly than females. Over a few weeks when they are typically 15 to 45 years old they lose central eyesight, seeing their surroundings but seeing detail such as someone's face or reading becomes increasingly difficult. The genetic change (mutation) causing LHON is in the mitochondria (small bodies inside cells that generate energy), passed by a mother to her child. LHON may be passed on by mothers who have no symptoms. Affected families should be referred to a genetics centre for information and support. The diagnosis is suspected when the ophthalmologist examines the inside of the eye and it can be confirmed by a test to look for the mutation that causes LHON. Some individuals with the genetic change never have eyesight problems and although there is no treatment in some cases vision may at least in part recover. The optic nerves are less able to tolerate toxins such as cigarette smoke and alcohol and certain medicines, so lifestyle changes may be advised.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child's case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved February 2013 by Isabelle Russell-Eggitt, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for Leber's hereditary optic neuropathy in the UK. Families can use Contact a Family's freephone helpline for advice, information and, where possible, links to other families. Contact a Family's web-based linking service can be accessed at community.cafamily.org.uk

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