The arrival of gene therapy has changed the counseling and management for patients with inherited retinal dystrophies, creating the possibility of halting progression and even potentially improving vision. Voretigene neparvovec-rzyl gene therapy has been FDA approved for RPE65 mutation-associated retinal dystrophy and many other interventional gene therapy clinical trials are currently under way. However, it is necessary for patients to complete genetic testing to determine if they may be candidates for current gene therapy or clinical trials.  This interactive lecture and workshop walks through the entire process for genetic testing: clinical determination of genetic eye disease, sample collection, analysis of genetic test results, interpretation of results within clinical context, and patient counseling.  Attendees will participate in simulated patient cases, starting with case history and interpretation of exam findings to determine eligibility for genetic testing. Participants will be guided through hands-on saliva sample collection (if safety allows), completion of genetic testing program eligibility and test requisition forms, completion of patient consent forms, interpretation of provided genetic test result printouts, discussion of patient counseling considerations, and determination of patient eligibility for clinical trials and gene therapy. Participants will receive clinical pearls for successful genetic testing.   It is recommended that attendees enrolling in this workshop have a working understanding of the basics of genetic inheritance patterns and familiarity with inherited retinal dystrophies.

Course Code:



Rachelle Lin, O.D.



AOA Expiration Date:


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