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What is Leber's Disease?
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Leber's Disease spans many different types of eye disorders. The founder of Blindness Related Learning has what is known as Leber's Hereditary Optic Neuropathy.
Leber's Hereditary Optic Neuropathy (L.H.O.N), is also known by Leber's Optic Atrophy (L.O.A), Leber's Optic Neuropathy (L.O.N), or just for short, Leber's Disease.
Leber's Hereditary Optic Neuropathy is a rare condition which can cause loss of central vision. It usually affects men, most commonly in the late twenties or early thirties, but the symptoms can happen at any age, to men or women.
Leber's Hereditary Optic Neuropathy was first described by Theodore Leber in the 19th century, but we only really started to understand the inheritance and cause of Leber's in the late 1980's.
Usually Leber's affects one eye first, so central vision is lost in that eye over a period of a few weeks. One or two months later, the second eye is affected in the same way. The time when someone is losing their eyesight is often called the 'acute' period. After a few more weeks, the eyesight stops getting worse.
Although that describes the most common pattern for Leber's, it can also affect someone very suddenly, or can affect them more gradually over a period of years.
Leber's is a genetic condition, that is, it is passed down through the family. Not everyone in a family affected by Leber's will lose their eyesight, and we do not yet know how to tell who will get symptoms.
We do know that Leber's is inherited through a gene which is only passed on through the egg cell from the mother. Men cannot pass on Leber's Hereditary Optic Neuropathy to their children.
Leber's Hereditary Optic Neuropathy is linked to a number of genes, all in the DNA of structures called Mitochondria. These provide energy to the cells of the body. We believe that the particular gene changes linked to Leber's Hereditary Optic Neuropathy lower the amount of energy available to the cells of the optic nerve and retina. These cells are damaged and can even die because of this lack of energy. The damage to the optic nerve and retina is what causes the symptoms of Leber's.
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