title: Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy.
abstract: This study evaluates whether abnormalities of visual function are present in children with congenital muscular dystrophy and whether these, if present, are associated with merosin status or magnetic resonance imaging (MRI) findings. Twenty children (age range 5-17 years) with a diagnosis of classical congenital muscular dystrophy were assessed on visual acuity, stereopsis, and visual fields and the results compared with merosin status and MRI findings. Visual-evoked potential results were available for 14 of 20 children. All 20 children revealed normal results on all the clinical tests assessing visual function, irrespective of their merosin status or of MRI findings. Visual-evoked potentials were normal in the children with merosin-positive congenital muscular dystrophy but were abnormal in those with merosin deficiency. Unlike the other forms of congenital muscular dystrophy, which are associated with structural brain changes and eye involvement, visual function was always normal in the classical form of congenital muscular dystrophy. Interestingly, visual function was normal also in the group of children with merosin-deficient congenital muscular dystrophy who manifested white matter changes involving the occipital lobes on MRI and abnormal visual evoked potentials. Further studies are needed to specify the nature of the white matter changes observed with MRI and the reason for the dissociation between clinical and neurophysiologic findings.
authors.affiliation: Department of Paediatrics, Royal Postgraduate Medical School, University College, London, United Kingdom.
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: S
authors.initials: S
authors.lastname: Anker
authors.forename: J
authors.initials: J
authors.lastname: Philpot
authors.forename: C
authors.initials: C
authors.lastname: Sewry
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D006801:Humans; D007797:Laminin / Q000172:deficiency*; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000151:congenital* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009434:Neural Pathways / Q000473:pathology; D014786:Vision Disorders / Q000150:complications* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D014785:Vision, Ocular / Q000502:physiology*
chemical_list: D007797:Laminin