title: Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.
abstract: We present ocular findings of 20 patients with the recessively inherited muscle-eye-brain (MEB) disease, characterised by severe visual failure, mental retardation, a pachygyria-polymicrogyria type neuronal migration disorder and congenital muscular dystrophy. The ocular findings consisted of myopia ranging from -6 to -27 D, retinal degeneration and optic atrophy. Five infants had congenital glaucoma, and juvenile cataracts developed in 9 children. The visual evoked potentials were abnormally high (> 50 microV) and delayed in 70% of patients. The electroretinogram was abolished in 12 patients. The changes were progressive during the follow-up time, which was up to 20 years.
authors.affiliation: Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, Finland.
authors.forename: H
authors.initials: H
authors.lastname: Pihko
authors.forename: M
authors.initials: M
authors.lastname: Lappi
authors.forename: C
authors.initials: C
authors.lastname: Raitta
authors.forename: K
authors.initials: K
authors.lastname: Sainio
authors.forename: L
authors.initials: L
authors.lastname: Valanne
authors.forename: H
authors.initials: H
authors.lastname: Somer
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002386:Cataract / Q000150:complications; D002648:Child; D005074:Evoked Potentials, Visual; D005123:Eye / Q000473:pathology*; D005124:Eye Abnormalities; D005260:Female; D005500:Follow-Up Studies; D005901:Glaucoma / Q000151:congenital; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000473:pathology*; D009216:Myopia / Q000209:etiology; D009896:Optic Atrophy / Q000209:etiology; D012162:Retinal Degeneration / Q000209:etiology