title: Increased functional connectivity in intrinsic neural networks in individuals with aniridia.
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.
authors.affiliation: Department of Psychology, University of Georgia Athens, GA, USA.
authors.forename: Jordan E
authors.initials: JE
authors.lastname: Pierce
authors.affiliation: Department of Psychology, University of Georgia Athens, GA, USA.
authors.forename: Cynthia E
authors.initials: CE
authors.lastname: Krafft
authors.affiliation: Department of Psychology, University of Georgia Athens, GA, USA.
authors.forename: Amanda L
authors.initials: AL
authors.lastname: Rodrigue
authors.affiliation: Department of Neuroscience, University of Georgia Athens, GA, USA.
authors.forename: Anastasia M
authors.initials: AM
authors.lastname: Bobilev
authors.affiliation: Department of Neuroscience, University of Georgia Athens, GA, USA ; Department of Cellular Biology, University of Georgia Athens, GA, USA.
authors.forename: James D
authors.initials: JD
authors.lastname: Lauderdale
authors.affiliation: Department of Psychology, University of Georgia Athens, GA, USA ; Department of Neuroscience, University of Georgia Athens, GA, USA.
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: McDowell
keywords: PAX6; aniridia; dual regression; fMRI; functional connectivity; resting state