Congenital aniridia in children. Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). The disease is characterized by partial or complete absence of iris. Clinical signs in children are essentially photophobia and nystagmus. The prevalence was reported range from 1:40,000 births to 1:100,000 but may be underestimated. It can also be associated with other systemic disorders then constituting a syndromic aniridia. These different syndromes are to be detected rapidly at risk of nephroblastoma in WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies, mental retardation) or cerebellar ataxia in Gillespie syndrome. The diagnosis is mostly performed in infants. Congenital aniridia combines several types of ocular disorders, such as aniridia, foveal hypoplasia, glaucoma, cataract, and progressive corneal opacification. Preventive therapies should be instituted and all ocular aspects of the disease should be treated. This disease often leads to major visual impairment or even long-term blindness and requires UV protection optical correction. Clinical research is active with corneal stem cells and gene therapy.