VISUAL FUNCTION IN CHILDREN WITH MEROSIN-DEFICIENT AND MEROSIN-POSITIVE CONGENITAL MUSCULAR-DYSTROPHY

This study evaluates whether abnormalities of visual function are pres ent in children with congenital muscular dystrophy and whether these, if present, are associated with merosin status or magnetic resonance i maging (MRI) findings, Twenty children (age range 5-17 years) with a d iagnosis of classical congenital muscular dystrophy were assessed on v isual acuity, stereopsis, and visual fields and the results compared w ith merosin status and MRI findings, Visual-evoked potential results w ere available for 14 of 20 children. All 20 children revealed normal r esults on all the clinical tests assessing visual function, irrespecti ve of their merosin status or of MRI findings. Visual-evoked potential s were normal in the children with merosin-positive congenital muscula r dystrophy but were abnormal in those with merosin deficiency. Unlike the other forms of congenital muscular dystrophy, which are associate d with structural brain changes and eye involvement, visual function w as always normal in the classical form of congenital muscular dystroph y, Interestingly, visual function was normal also in the group of chil dren with merosin-deficient congenital muscular dystrophy who manifest ed white matter changes involving the occipital lobes on MRI and abnor mal visual evoked potentials, Further studies are needed to specify th e nature of the white matter changes observed with MRI and the reason for the dissociation between clinical and neurophysiologic findings. ( C) 1998 by Elsevier Science Inc. All rights reserved.