In contrast, missense PAX6 variants are usually linked to milder aniridia cases or, more frequently, to nonaniridia-related phenotypes, such as microphthalmia and ocular coloboma (OMIM 120430 and 120200) or foveal hypoplasia 1 (OMIM 136520; refs. 18, 22–24). The gene discussed is PAX6; the disease is isolated aniridia.