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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.

  • Mitochondrial disease
  • 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.

  • A number of eye tests will be carried out so that we can determine which part of the eye is affected by mitochondrial disease. Depending on the circumstances, genetic testing can be requested to find out whether a person is carrying a spelling mistake within a gene (genetic mutation) as the underlying cause of the disease. Genetic testing can also establish whether a person is a carrier of a specific genetic mutation which can have wider implications for the family- in particular, the risk of the genetic mutation being inherited by any children they might have.

    Your eye condition might need to be monitored regularly to determine whether your vision is getting worse. We will discuss all available treatment options with you to allow you to make an informed decision. In some cases, we might discuss research studies with you and whether you are eligible to take part in clinical treatment trials.

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Mitochondrial disease consultants

A picture of Mr Patrick Yu Wai Man

Mr Patrick Yu Wai Man


Consultant Ophthalmologist

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Paying for treatment

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