Fast Five Quiz: Inherited Retinal Diseases

Raj K. Maturi, MD


March 31, 2023

According to 2022 guidelines from the AAO, genetic testing is appropriate for most patients who are believed to have genetic retinal degeneration. When genetic testing clearly identifies the genetic cause of disease, it does not need to be repeated; however, testing that was negative or inconclusive may be repeated.

Genetic testing can be beneficial for at-risk family members; however, the implications of testing asymptomatic individuals in the absence of established therapies should be considered, and genetic counseling should accompany the testing.

A negative result on genetic testing does not necessarily rule out an IRD. A negative result from large-panel genetic tests may reflect the limits of the panel's design and not the broad range of potential genetic candidates. In many cases, diagnostic testing is recommended irrespective of genetic test results, on the basis of physical symptoms or findings from clinical examination. When a panel genetic test is negative, whole genome sequencing may be of benefit.

Learn more about genetic testing for IRDs.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.