Aniridia is a devastating ocular disease requiring intensive eye care, social and community support from birth and throughout an individual’s lifetime.

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Genetic diagnosis will bring us one step further towards improved clinical management of aniridia

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. Hopefully this new discovery linking specific mutation type to the clinical picture will enable accurate genetic information to assist the ophthalmologist to reach a more precise picture of the progression and consequences of the disease, to enable better and more personalized treatment choices to be applied.

A group of children and adult patients diagnosed with aniridia at the Saarland University Medical Center in Homburg, Germany have participated in this study by providing blood samples as well as the clinical examination data that have made this discovery possible. An international team of researchers led by Dr. Neil Lagali from Linköping University in Sweden, has been involved in this investigative work that has involved researchers from Sweden, Poland, Norway and Germany, under the support of EU COST action ANIRIDIA-NET #CA18116 (

A wide variety of PAX-6 gene mutations had already been described, but the investigators found nine new mutations not previously reported. Most interestingly, the association of the type of gene alteration with the clinical features and progression of vision loss in the disease led to the identification of different subtypes of the disease, which is the key finding of this piece of research which may lay the foundations for a better clinical management of aniridia patients.

The full article: Lagali N, Wowra B, Fries FN, Latta L, Moslemani K, Utheim TP, Wylegala E, Seitz B, Käsmann-Kellner B. PAX6 Mutational Status Determines Aniridia-Associated Keratopathy Phenotype. Ophthalmology. 2019 Sep 28.

Acknowledgment: The work described here was in part supported by the European Union’s COST Program, under COST Action CA18116, ANIRIDIA-NET ( as well as by funds from the Dr. Rolf M. Schwiete Foundation in Mannheim, Germany and the Norwegian Association of Aniridia – Aniridi Norge. The work was also made possible by the cooperation of the German Aniridia Association (AWS Aniridie-Wagr e.V.).

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