Diagnosis and treatment

How is mitochondrial disease diagnosed?

Genetic testing is an essential first step.

A confirmed genetic diagnosis can help predict how a particular inherited eye condition will develop and progress over time and is the best way to prevent or minimise complications before irreversible damage has been caused.

Doctors are then in a position to advice other family members on whether they have inherited the genetic mutation or the likelihood of passing it on to future children. Importantly, knowing the genetic mutation improves access to research studies and clinical trials that are exploring new treatments, such as gene therapy.

Treatment for mitochondrial disease

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.

Research into mitochondrial disease

Research into eye disorders caused by mitochondrial disease is focused on three areas:

• Unlocking the remaining genes that have not yet been identified so that people who clearly have an inherited eye condition can be given an accurate diagnosis.
• Finding better ways of imaging the eye so that doctors can tell if the disease is progressing or whether a particular treatment is working or not.
• Developing new effective treatments by making use of all of the scientific knowledge that has been gained over the years to achieve our ultimate goal - to slow or even better stop sight loss caused by genetic eye diseases

.We now have a much better understanding of mitochondrial eye diseases and the exciting discoveries that have been made over the past decade have opened a whole new horizon in terms of potential cures.