A deletion involving most of the coding region of the ELP4 gene, from intron 2–3 to intron 9–10 (arr[GRCh37]11p13(31541660_31802443)x1), was assessed in a patient with bilateral aniridia, nystagmus, posterior polar cataract, and bilateral corneal dystrophy (A114). Here, ELP4 is linked to isolated aniridia.