A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina. A case report.
A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (FCMD), early onset of muscular hypotonia, severe mental retardation, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described. Hyperornithinaemia and iminoglycinuria were not noted. To our knowledge, this is the first reported case of FCMD associated with atypical gyrate atrophy of the choroid and retina.
D000596:Amino Acids / Q000032:analysis; D001284:Atrophy; D002675:Child, Preschool; D002829:Choroid / Q000473:pathology*; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000151:congenital / Q000235:genetics; D012160:Retina / Q000473:pathology*
D000596:Amino Acids