Unlock Genetics

Discover genetic testing

Searching for the cause

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. 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 for you, your family and your doctor. It may confirm the inheritance pattern and allow your ophthalmologist to reach a more precise diagnosis of your condition. In addition, many of the new treatments currently being developed are designed for a specific genetic fault, so knowing your genetic diagnosis might provide options about receiving treatments or taking part in clinical trials. Although a genetic diagnosis will not always lead to treatment options, many people find they feel a benefit from “knowing” and understanding the cause of their sight loss.

However, anxieties may arise from genetic testing, such as finding out that there is currently no treatment being developed for your particular mutation. For around one third of people with inherited sight loss, genetic testing won’t return a result at all, which can be disappointing. Not all genes have been discovered yet and many are still not well understood, so current tests cannot find the genetic fault for everyone.

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. Find out about Getting a referral for genetic testing.

Retina UK Research Development Manager in conversation with Georgina Hall, Consultant Genetic Counsellor at the Manchester Centre for Genomic Studies about why you might consider getting a genetic test

Retina UK Information and Support Manager Denise Rawden speaks to Georgina Hall, Consultant Genetic Counsellor at the Manchester Centre for Genomic Medicine about the practicalities of getting a genetic test

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