Currently, chromosomal abnormalities and single gene disorders are known to cause thousands of human diseases, many of which involve eye sequelae.  These ocular phenotypes have been well described and, therefore, the ophthalmic exam may offer crucial insights into detecting an underlying genetic disorder.  As such, it is increasingly important that optometrists have an understanding of the ocular signs, implications and management of the various genetic eye diseases. This course will serve as a comprehensive review of the most common genetic ocular conditions, as well as the inherited systemic disorders with important eye findings.  In addition, there will also be a discussion regarding the role and application of genetic testing and counseling, as this can make a significant impact on individuals and families with these conditions. Finally, this course will explore the current research and future directions of treatments in this area, including gene therapy.

Course Code:



Erin Keim, O.D.



AOA Expiration Date:


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