Is aniridia associated with mental retardation?
In most cases, aniridia is caused by a mutation in the PAX6 gene, and is not associated with mental retardation. However, in about 30% of cases, sporadic (non-inherited) aniridia is caused by a missing, or deleted PAX6 gene, rather than a mutation. In these cases, deletion of other genes in the same area results in WAGR syndrome (WAGR is an acronym for: Wilms tumor, Aniridia, Genitourinary abnormalities, and mental Retardation). Although mental retardation is common in individuals with WAGR syndrome, neither mental retardation nor any of the other conditions is always present. For this reason, genetic testing is recommended for all infants born with sporadic aniridia. For more information on WAGR syndrome: http://www.wagr.org/ • Should aniridics have ultrasounds to test for Wilm’s tumors? Most pediatricians recommend that aniridic children with a deleted PAX 6 be tested for Wilm’s tumors every 3 months, as the possibility is high if there is a deletion. There is debate as to whether ch
