Research progress on clinical features and genetics of anirida

Anirida is one of rare, autosomal dominant, inherited congenital ocular diseases with a global prevalence from one in 64, 000 to one in 96, 000. It is commonly characterized with some degrees of eye diseases, such as cataract, glaucoma, keratopathy and so on. Most cases are associated with mutations of the PAX6 gene. In addition, mutations of other genes, like FOXC1 and PITX2, also result in this disease. This article reviews the clinical manifestations, major mutation hotspots and the molecular mechanisms underlying aniridia. Key words: Aniridia; Eye disease; PAX6; Mutation