Axenfeld-Rieger Syndrome is most frequently diagnosed by an ophthalmologist. In some cases, a clinical examination can also help to diagnose the syndrome. Genetic testing should be undertaken to confirm the diagnosis.
As Axenfeld-Rieger Syndrome may be mild or severe in its presentation, genetic testing may help patients identify other health issues that can be caused by their genetic mutation.
* The information on this page has been checked and edited for accuracy by Linda Reis (MS, CGC) at the Medical College of Wisconsin.