The aim of these pages is to increase the level of awareness and understanding of genetic testing and genetic counselling among people living with inherited retinal dystrophies, empowering them to make fully informed decisions about their lives, healthcare and family planning.
Knowing our genetic diagnosis is a gift; we are now in the best position to make choices and take up any treatment opportunities that arise.Cindy
Genes exist inside all the cells that make up your body. They contain genetic code (DNA) and provide instructions for constructing proteins, which are the building blocks of our bodies and perform a huge variety of roles.
Your doctor or genetic counsellor will spend some time asking about other people in your family to try to work out the way in which your particular faulty gene has been passed down through the generations – this is referred to as the inheritance pattern.
Genetic testing, usually via a blood sample, is used to try and identify which gene contains the fault that is causing an individual’s sight loss.
Genetic counsellors are specially trained healthcare professionals with extensive scientific knowledge who spend time talking to families living with inherited conditions.
If you have a diagnosis of an inherited retinal condition, or you are a close relative of somebody living with one of these conditions, you are entitled to access testing and genetic counselling.
Genetic testing and counselling services are usually coordinated through a main hospital where the eye clinic or clinical service is based; some also have clinics in local hospitals across the service’s area.
