Fast Five Quiz: Diagnosis of Inherited Retinal Diseases

Donny W. Suh, MD, MBA;  Raj K. Maturi, MD


March 31, 2023

Currently, over 270 genes are identified in IRDs, which are becoming essential to the diagnosis. Many times, the exact type of IRD that a patient has is difficult to determine on the basis of testing alone, particularly in the advanced stages. Results from genetic testing may confirm or dispute a specific IRD in patients of all ages and can help to distinguish IRD subtypes. In addition, it may guide treatment options or further investigation if results suggest a syndromal condition. Furthermore, with genetic counseling, patients and families can discuss the impact on the patient and other family members and guide future family-planning decisions.

In 2017, the first US Food and Drug Administration–approved gene therapy for IRD caused by a mutation in the RPE65 gene became available. It is expected that more therapies will become available in the future that target specific genes, making genetic testing a cornerstone in the diagnosis of IRD.

Coverage for genetic testing varies but is typically not correlated to number of gene variants.

Learn more about targeted gene therapies.


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