Characterizing Visual Field Deficits in Cerebral/Cortical Visual Impairment (CVI) Using Combined Diffusion Based Imaging and Functional Retinotopic Mapping: A Case Study
2016
Cortical/cerebral visual impairment (CVI) is the leading cause of pediatric visual impairment in children in developed countries and has become a significant public health concern (Kong et al., 2012). CVI is clinically defined as significant visual dysfunction resulting primarily from perinatal injury to visual pathways and structures rather than ocular pathology alone (Dutton, 2003). Perinatal hypoxia is the most common cause resulting in impaired maturation of key visual pathways such as the optic radiations; a general condition referred to as white matter damage of immaturity (WMDI). In preterm infants, this maldevelopment is often associated with periventricular leukomalacia (PVL), which is characterized by an enlargement of the lateral ventricles and focal gliosis of surrounding white matter pathways coursing on to the visual cortex (Good et al., 2001; Hoyt, 2007). Depending on the location and extent of the damage, children with CVI often present with a broad range and combination of visual dysfunctions such as decreased visual acuity, visual field deficits, and also impairments in oculomotor, visuomotor, and cognitive visual processing (Good et al., 2001; Dutton, 2003; Hoyt, 2007). The variability in the location and extent of brain injury across individuals makes the prediction of visual functional outcomes and recovery in CVI patients particularly challenging (McKillop and Dutton, 2008).
Despite the increasing prevalence of this condition, the relationship between observed visual deficits in CVI and the underlying structural and functional changes resulting from damage to key visual pathways, remains poorly understood. Specifically, it remains unknown how the maldevelopment of key visual pathways relates to the organization of the visual cortex and further, how these structural and functional changes relate to visual impairments observed within the clinical setting. Standard clinical neuroimaging techniques such as computerized tomography (CT) and magnetic resonance imaging (MRI) can help characterize gross changes in cerebral structure. However, the underlying micro-architecture of key white matter pathways (such as the optic radiations) cannot be fully ascertained, nor can the function of visual cortical areas be assessed. Advances in diffusion based imaging (i.e., diffusion MRI) modalities such as high angular resolution diffusion based imaging (HARDI) combined with tractography analysis techniques can be used to reveal the organization of specific white matter projections (Jones, 2008) see also (Ffytche et al., 2010). At the same time, retinotopic mapping using functional magnetic resonance imaging (fMRI) can be employed to assess the organizational and functional integrity of early visual cortical areas (Wandell, 1999).
In this study, we used a combined structural and functional multi-modal neuroimaging approach to characterize the underlying maldevelopment of the geniculo-striate pathway in an adolescent with CVI. The patient presented here had a documented inferior visual field deficit determined on clinical ophthalmic examination. Despite her diagnosis of CVI and associated visual impairments, she was able to participate in formal testing and provide reliable data (including maintaining fixation during perimetry and retinotopic stimulation) and also remain immobile in the scanner environment without the need of anesthesia. Thus, (and contrary to prior imaging studies with CVI individuals), we had the opportunity to obtain high quality structural and functional imaging data on the same subject in order to investigate the relationship between the structural integrity of the optic radiations and the functional organization of early visual cortical areas with respect to her clinical visual field impairment. We demonstrate the feasibility of combining this structural and functional imaging approach in a patient with CVI along with an age/gender matched normal developed control for comparison. By combining these imaging modalities, it is possible to provide further insight regarding the functional manifestations of early onset developmental damage to key visual pathways and their relation to specific impairments of visual function.
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