Mitochondrial disease

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.

What is mitochondrial disease?

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.

How does mitochondrial disease affect the eye?

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.

Mitochondrial disease treatment is available at Moorfields Private

You can self-fund or use private medical insurance to fund your treatment.

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