PAX6 mutational status determines aniridia-associated keratopathy phenotype
Ophthalmologists have found specific variations of the Pax6 gene may account for the different subtypes and severity degrees of this devastating eye disease. In this study, patients with WAGR syndrome had the most aggressive keratopathy.
“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.” Aniridia-net.eu
