A c.1080C>T change (R240X), identical to that in our family ANF6, that was identified recently in a Thai study also showed complete aniridia with nystagmus, strabismus and foveal hypoplasia [10] c1080C>T has been reported several times previously in other ethnic groups and appears to represent a hotspot of PAX6 mutation, perhaps due to methylated cytosine deamination. Here, PAX6 is linked to aniridia.