Brain and Development
Volume 17, Issue 1 , Pages 57-61, January 1995

Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study

  • Helena Pihko

      Affiliations

    • Corresponding Author InformationCorresponding author. Fax: (358) (0) 471 4704.
    • Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, SF-00290 Helsinki, Finland
    • ,
  • Marjatta Lappi

      Affiliations

    • Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, SF-00290 Helsinki, Finland
    • ,
  • Christina Raitta

      Affiliations

    • Department of Ophthalmology, University of Helsinki, Helsinki, Finland
    • ,
  • Kimmo Sainio

      Affiliations

    • Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, SF-00290 Helsinki, Finland
    • ,
  • Leena Valanne

      Affiliations

    • Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, SF-00290 Helsinki, Finland
    • ,
  • Hannu Somer

      Affiliations

    • Department of Neurology, University of Helsinki, Helsinki, Finland
    • ,
  • Pirkko Santavuori

      Affiliations

    • Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, SF-00290 Helsinki, Finland

Received 19 April 1994; accepted 25 October 1994.

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 μV) 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.

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PII: 0387-7604(94)00101-3

doi:10.1016/0387-7604(94)00101-3

Brain and Development
Volume 17, Issue 1 , Pages 57-61, January 1995

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