Aniridia Europe is pleased to report that a cooperative international paper on aniridia has been published. It is the result of the hard work of clinicians and researchers, most of them involved in the EU COST Action Aniridia-Net, and it is aimed at improving patients’ clinical management.

Here the highlights:

• Severe foveal hypoplasia is more common than complete absence of the iris in PAX6-related aniridia

• Association of congenital aniridia and cartwheel cataracts is highly indicative of a PAX6 gene defect

• 11p13 microdeletions restricted to the PAX6 3′ downstream region are associated with a milder retinal and corneal phenotypes

• Targeted Next-Generation Sequencing combined with Whole-Genome Sequencing make it possible to increase the diagnostic yield of congenital aniridia

• New molecules are emerging to treat corneal opacification in aniridia-associated keratopathy

Read the full article:

Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches

Alejandra Daruich, Melinda Duncan, Matthieu P. Robert, Neil Lagali, Elena V. Semina, Daniel Aberdam, Stefano Ferrari, Vito Romano, Cyril Burin des Roziers, Rabia Benkortebi, Nathalie De Vergnes, Michel Polak, Frederic Chiambaretta, Ken K. Nischal, Francine Behar-Cohen, Sophie Valleix, Dominique Bremond-Gignac
Progress in Retinal and Eye Research, Available online 22 October 2022, 101133