title: Ocular manifestations in Fukuyama type congenital muscular dystrophy.
abstract: We describe a child with Fukuyama type congenital muscular dystrophy (FCMD) who had several ocular manifestations since birth. These included high myopia, strabismus, nystagmus and optic atrophy of both eyes. Later he developed retinal detachment of both eyes. Our survey of 33 cases with FCMD revealed that high myopia and optic atrophy are common in FCMD. Retinal detachment was reported in two cases in addition to the present one and was considered to be of developmental origin. The association of congenital muscular dystrophy with brain changes and ocular anomalies were found in FCMD, muscle, eye and brain disease (MEB) and Walker-Warburg syndrome (WWS). Ocular manifestations in FCMD were, in general, less severe than those in WWS or MEB. Our study suggests that FCMD, MEB and WWS are developmental abnormalities with a continual spectrum of disease severity.
authors.affiliation: Department of Pediatrics, Kobe General Hospital, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yoshioka
authors.forename: S
authors.initials: S
authors.lastname: Kuroki
authors.forename: T
authors.initials: T
authors.lastname: Kondo
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000151:congenital / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000151:congenital; D009216:Myopia / Q000209:etiology; D009759:Nystagmus, Pathologic / Q000209:etiology; D009896:Optic Atrophy / Q000209:etiology; D012163:Retinal Detachment / Q000209:etiology; D013285:Strabismus / Q000209:etiology