PAX

PAX gene mutation屬於Transcription factor mutation

PAX2 mutation → optic nerve coloboma, renal hypoplasia

PAX3 mutation → Waardenburg syndrome with dystopia conthorum

PAX6 mutation → aniridia, peter anomaly , autosomal dominant keratitis, dominant foveal hypoplasia

* aniridia通常伴隨cataract and glaucoma

* 注意：幾乎所有的aniridia都由PAX mutation而來，但仍有一些partial aniridia是來自AR的Gillepre syndrome

* WAGR : Wilm's tumor, Aniridia, Genitoruinary anomaly, Mental retard （位置在11p13產生gene deletion）