18 Dec 2019 Genetic diagnosis will bring us one step further towards improved clinical management of aniridia
Ophthalmologists at the Saarland University Medical Centre including Prof. Barbara Käsmann-Kellner and Prof. Berthold Seitz have found specific variations of the primary gene that causes aniridia (also called PAX-6) that may account for the different subtypes and severity degrees of this devastating eye disease. This novel finding will improve disease characterization and diagnosis, facilitating treatment decisions as well as future research in patients suffering from aniridia. Hereditary aniridia is a rare, severely impairing disease principally caused by one (or several) mutations or alterations in the PAX-6 gene; however, patients present with a wide range of clinical manifestations, varying progression rates and with diverse prognoses. These wide variations hinder clinical management and make impracticable a general guideline for treatment. ...
