"WAGR syndrome"
"Classic aniridia is found with various PAX6 loss-of-function mutations 1. Other genetic loci that have been implicated include FOXC1, PITX2, and/or associated regulatory sequences. Gillespie syndrome is associated with mutations of the ITPR1 gene 1. Multisystemic smooth muscle dysfunction syndrome is related to ACTA2 mutations. WAGR syndrome has been linked to PAX6 and WT1 deletions on chromosome 11p."
"Classic aniridia is found with various PAX6 loss-of-function mutations 1. Other genetic loci that have been implicated include FOXC1, PITX2, and/or associated regulatory sequences. Gillespie syndrome is associated with mutations of the ITPR1 gene 1. Multisystemic smooth muscle dysfunction syndrome is related to ACTA2 mutations. WAGR syndrome has been linked to PAX6 and WT1 deletions on chromosome 11p."
"Classic aniridia tends to be bilateral and usually presents with other ocular abnormalities including foveal (+/-optic nerve) hypoplasia; affected patients are at risk of developing cataracts, glaucoma and/or ptosis."
"Gillespie syndrome: triad of partial aniridia, ataxia and learning disability"