AUTHOR=Pierce Jordan E. , Krafft Cynthia E. , Rodrigue Amanda L. , Bobilev Anastasia M. , Lauderdale James D. , McDowell Jennifer E. TITLE=Increased functional connectivity in intrinsic neural networks in individuals with aniridia JOURNAL=Frontiers in Human Neuroscience VOLUME=8 YEAR=2014 URL=https://www.frontiersin.org/journals/human-neuroscience/articles/10.3389/fnhum.2014.01013 DOI=10.3389/fnhum.2014.01013 ISSN=1662-5161 ABSTRACT=

Mutations affecting the PAX6 gene result in aniridia, a condition characterized by the lack of an iris and other panocular defects. Among humans with aniridia, structural abnormalities also have been reported within the brain. The current study examined the functional implications of these deficits through “resting state” or task-free functional magnetic resonance imaging (fMRI) in 12 individuals with aniridia and 12 healthy age- and gender-matched controls. Using independent components analysis (ICA) and dual regression, individual patterns of functional connectivity associated with three intrinsic connectivity networks (ICNs; executive control, primary visual, and default mode) were compared across groups. In all three analyses, the aniridia group exhibited regions of greater connectivity correlated with the network, while the controls did not show any such regions. These differences suggest that individuals with aniridia recruit additional neural regions to supplement function in critical intrinsic networks, possibly due to inherent structural or sensory abnormalities related to the disorder.