Fast Five Quiz: Diagnosis of Inherited Retinal Diseases

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

Disclosures

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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