Solving the mystery of us.

Two moms—one who has retinitis pigmentosa (RP), and one who is raising a daughter with a form of Leber congenital amaurosis (LCA due to mutations in the IQCB1 gene)—talk about the importance of genetic testing.

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Genetic testing: mapping your future.

Anyone with an inherited retinal disease (IRD) should consider genetic testing. Genetic testing may be able to identify the mutated gene (or genes) responsible for your vision loss.  Armed with this important information, you and your doctor can then determine the best course of action for your disease and discuss how the newest advances in research might apply to you. You won’t know if you’re a candidate for gene therapy clinical trials, or any potential gene therapy treatments, until you know your genetic mutation.

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Complex science. Simple process.

The science behind genetic testing may be deeply complicated, but the testing procedure itself can be relatively simple.

 
 

This is only general information about genetic testing. Each individual’s situation and experience will vary. Always consult your healthcare professional when making decisions about eye health or genetic testing.

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Still have questions?

If you’d like more information about genetic testing, or need a helping hand in getting started, sign up and we’ll be in touch.

 

Where can I learn more about IRDs and genetic testing?

Our resources page provides links to more good information about genes, inherited retinal diseases, and genetic testing.