Abstract
Infantile Nystagmus Syndrome (INS) is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI). Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs) were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics). The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left), brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA) values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS.
Highlights
Periodic, alternating involuntary eye movements detected within the first six months of life characterize Infantile Nystagmus Syndrome (INS)
About 40% of INS patients have an autosomal dominant inheritance pattern [2] it is important to note that a few studies have alluded to the possible genetic predisposition associated with several genes: FRMD7 (Xq26-27) [3], Xq28 [4], NYS1 (Xp11.4-p11.3) [5], NYS2 (6p12) [6], while others have found no link with INS and 6p12, 7p11, and 15q11 [7]
Investigation of other areas of the brain did not reveal significant differences in any of these parameters. Analyzing other parameters, such as radial diffusivity (RD), λ1, λ2 and λ3 eigenvalues did not result in any significant differences in the pons, cerebellum or the rest of the brain
Summary
Periodic, alternating involuntary eye movements detected within the first six months of life characterize Infantile Nystagmus Syndrome (INS). INS is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births [1]. INS accounts for about 2–8% of children with visual impairment or legal blindness who utilize services for the visually impaired. About 40% of INS patients have an autosomal dominant inheritance pattern [2] it is important to note that a few studies have alluded to the possible genetic predisposition associated with several genes: FRMD7 (Xq26-27) [3], Xq28 [4], NYS1 (Xp11.4-p11.3) [5], NYS2 (6p12) [6], while others have found no link with INS and 6p12, 7p11, and 15q11 [7]. Nystagmus in early life may be associated with any of these genes and can be PLOS ONE | DOI:10.1371/journal.pone.0125380. Nystagmus in early life may be associated with any of these genes and can be PLOS ONE | DOI:10.1371/journal.pone.0125380 April 10, 2015
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