Genetics

The genetics service provides testing and counselling for patients and families with inherited eye disease.

Genetic testing can be used to find out whether a person is carrying a specific altered gene (genetic mutation) that causes a particular eye condition. It may be carried out for a number of reasons, including to:

• Diagnose a person with a genetic condition.
• Help work out the chances of a person developing a particular condition.
• Determine whether a person is a carrier of a certain genetic mutation that could be inherited by any children they have.

If your doctor thinks genetic testing may be appropriate for you, you'll usually be referred for genetic counselling as well. Genetic counselling is a service that provides support, information and advice about genetic conditions. It's conducted by healthcare professionals who've received training in the science of human genetics (a genetic counsellor or a clinical geneticist).

You should speak to your consultant eye doctor, GP or optician if you think you need genetic testing. If he or she decides that your condition needs to be investigated by more specialist staff, they will arrange for you to have an outpatient appointment with Moorfields or another provider. If you choose to be treated at Moorfields, we will send you a letter confirming the date, time and location of your appointment with us.

Finding genetic changes that cause disease from NIHR Moorfields BRC on Vimeo.

For more information about genetics and inherited diseases, please visit:

• Gene Vision - a resource on rare genetic eye disorders for everyone 
• NHS Choices - Genetics
• Genetic Alliance