Defects in PAX6 gene can affect eye development and result in a broad range of clinical phenotypes, with the most common being aniridia, a pan ocular disorder that is primarily characterised by the absence or hypoplasia of the iris, nystagmus, and foveal hypoplasia, accompanied by cataracts, glaucoma and corneal keratopathy [14]. The gene discussed is PAX6; the disease is isolated aniridia.