Schedule an exam with your general practitioner (GP) or optician. An eye exam and family history may reveal signs of your disease. If they suspect you or your family member have an inherited retinal disease, they will refer you to your local ophthalmology department.
Here you will be connected to an eye specialist such as an ophthalmologist, retinal specialist or an inherited retinal disease specialist depending on your local eye care facility.
Once you’ve been referred to an ophthalmologist, retinal specialist, or inherited retinal disease specialist, they will assess if genetic testing is right for you. Your specialist may be able to organise genetic testing on their own or they may refer you to a genomic medicine or genetics centre.
Meet with a genetic counsellor at the genetics centre who will explain the value of genetic testing for you and your family, what to expect, and later explain the test results. The genetic counsellor along with your eye specialist will help determine which genetic test is most appropriate.
Genetic testing will be ordered by your particular specialist. The genetic testing will most likely involve a blood sample and will be sent to a genomic laboratory hub. Results may take up to 3 months, but timing can vary depending on which test is recommended and the lab used.
If your results are received over email, it can be helpful to request an in-person discussion. Together, you may talk about support and resources available for your condition, such as support groups or custom low-vision aids.
Genetic counsellors* are key experts when it comes to genetic diseases and testing. Along with your eye specialist, the genetic counselor will be your guide every step of the way, both before and after your genetic test. Here’s what to expect:
* If you don’t have access to a genetic counsellor in your region, please refer to your eye specialist for guidance about your genetic test
Now it’s time to partner with your genetic counsellor and eye specialist to help you understand what your results mean for you today and in the future. It’s normal to have lots of questions.
Here are some you might want to ask your eye care team:
Find support among communities and organisations dedicated to inherited retinal diseases.