Mitochondrial disease is an inherited genetic condition that can be present either at birth or develop later in life. It occurs when the energy-making batteries (mitochondria) within the cells of the body do not work as well as they should.
Around 1 in 17 people will be affected by a rare disease at some point in their lives. This equates to approximately 3.5 million people in the UK and 30 million people across Europe.
About 80% of rare diseases have a genetic component. Mitochondria are unique in containing their own genetic code that we inherit only from our mothers. If there is a genetic mutation in one of the 37 genes contained with the mitochondrial genetic code, the disease can be passed from mother to child. A genetic mutation is like a spelling mistake in the genetic make-up of a cell.
Half of all people with mitochondrial disease will be affected by an eye condition of some kind.
Mitochondrial disease can cause sight loss, double vision (diplopia), and drooping of the upper eyelids (ptosis).
Sight loss is frequently caused by damage to the optic nerve, which is the specialised cable at the back of the eye that sends electrical signals from the retina to the brain. Loss of vision can also be caused by macular degeneration, cataracts or a stroke.
Double vision (diplopia) and drooping of the upper eyelids (ptosis) occur due to weakness of the muscles around the eye.
Find out more about genetic testing and treatment for mitochondrial disease
Find out more about ptosis, a common symptom of mitochondrial disease
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