Structural brain abnormalities in 12 persons with aniridia.

Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the gene, which is a transcriptional regulator necessary for normal eye and brain development.  The ocular abnormalities of aniridia have been well characterized, but mounting evidence has implicated brain-related phenotypes as a prominent feature of this disorder as well.  Investigations using neuroimaging in aniridia patients have shown reductions in discrete brain structures and changes in global grey and white matter.