Is optic nerve fibre mis-routing a feature of XXXX ?

@entity1 @entity45215 @entity43619 @entity14300 @entity17327
PURPOSE: To determine whether @entity1 with @entity14300 ( @entity14300 ) have electrophysiological evidence of optic nerve fibre mis-routing similar to that found in @entity1 with @entity43619 ( @entity43619 ). METHOD: We recorded the Pattern Onset VEP using a protocol optimised to detect mis-routing of optic nerve fibres in older @entity1 and adults. We tested 20 @entity1 (age 15-69 yrs) with X-linked or autosomal recessive @entity14300 , 14 @entity1 (age 9-56 yrs) with @entity43619 and 13 normally pigmented volunteers (age 21-66 yrs). We measured the amplitude and latency of the CI component at the occipital midline and over left and right occipital hemispheres. We also assessed the computed inter-hemispheric "difference" signal. Subjects with @entity14300 were classified as having the "complete" or "incomplete" phenotype on the basis of their ERG characteristics. Members of X-linked @entity14300 pedigrees underwent mutation screening of the @entity45215 and @entity17327 genes. RESULTS: CI was significantly smaller over the ipsilateral hemisphere and more prominent over the contralateral hemisphere in @entity43619 @entity1 compared with both controls and @entity14300 @entity1 . In @entity14300 @entity1 CI response amplitudes were not significantly different from controls but peak latency was prolonged at all three electrodes compared with controls. The inter-hemispheric "difference" signal was abnormal for the @entity43619 group but not for the @entity14300 group. Contralateral dominance of CI could be identified in the majority of @entity43619 @entity1 and the "difference" signal was opposite in polarity for left compared with right eye stimulation in every @entity1 in this group. Only 3 of 20 @entity1 with @entity14300 showed significant inter-hemispheric asymmetry similar to that seen in the @entity43619 @entity1 . All 3 @entity14300 @entity1 with evidence for optic nerve fibre mis-routing had X-linked pedigrees: 2 had an identified mutation in the @entity45215 gene but no mutation in either the @entity45215 or @entity17327 genes was identified in the third. VEP evidence of optic nerve fibre mis-routing was present in 3 of the 11 subjects with "complete" phenotype and none of the 9 @entity1 with "incomplete" phenotype @entity14300 . CONCLUSION: Mis-routing of optic nerve fibres does occur in @entity14300 but we found evidence of it in only 15% of our @entity1 .
