What is genetic testing and how can it help me?
Genetic testing is used to try and identify which gene contains the fault that is causing an individual’s sight loss. In many cases, the result will give the name of the mutated gene, and this is what we refer to as a genetic diagnosis.
A genetic diagnosis provides valuable information as it may confirm the inheritance pattern and allow your ophthalmologist to reach a more precise diagnosis of your condition. Knowing your genetic diagnosis might also provide options about receiving treatments or taking part in clinical trials related to your eye condition. Many people find they also feel a benefit from “knowing” and understanding the cause of their sight loss.
You must also be prepared to find out that there is currently no treatment being developed for your particular mutation. Your genetic test may not even return a result at all, this can happen to around one third of people tested and can be disappointing.
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, for further information see How can a genetic counsellor help with inherited sight loss?
Further information about genetic testing and how to get a referral can be found on the Retina UK website.
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