Most rare retinal diseases including retinitis pigmentosa, Stargardt disease, Usher syndrome and choroideremia are inherited and usually caused by one or more defects (mutations) in a single gene.

Genetic testing is available to attempt to identify the defective gene causing the IRD in an individual or family.

There are potential benefits to knowing the underlying genetic cause of a persons IRD. It may help confirm or refine a diagnosis. Knowing the mutated gene can help a person understand how the disease may affect their vision during their lifetime. It can also guide the testing of family members to identify those at risk of inheriting the condition. Knowing the genetic defect may help people qualify for clinical trials and inform them about which future therapies may be of benefit.

At the same time, the information revealed from a genetic test may not be immediately helpful to an individual or family. In some cases, the knowledge might create anxiety for some family members.

It is very important to remember, however, that a genetic test may not reveal the defective gene, which can be frustrating for a patient and their family.

The decision to undergo genetic testing should not be made lightly. Anyone interested in a genetic test is strongly advised to talk to a genetic counselor or retinal physician who is knowledgeable about the genetic testing process and the potential impacts of the results, before they decide to undertake the test.

The Foundations booklet Genetic Testing For Retinal Degenerative Diseases: Information and Resources for Affected Individuals, Families and Health Care Providers offers additional information on the genetic testing process. While the booklet is not a substitute for a genetic counselor, it can help you better understand and prepare for the process. The last section of the booklet lists additional resources, which may also be helpful.

You can download the booklet by clicking on the hyperlink below or call 800-683-5555 and ask for a copy to be mailed to you.

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Why Genetic Testing is Important - Foundation Fighting Blindness

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