Document Detail


Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.
MedLine Citation:
PMID:  7762765     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
H Pihko; M Lappi; C Raitta; K Sainio; L Valanne; H Somer; P Santavuori
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Brain & development     Volume:  17     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:    1995 Jan-Feb
Date Detail:
Created Date:  1995-06-26     Completed Date:  1995-06-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  57-61     Citation Subset:  IM    
Affiliation:
Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, Finland.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Brain / abnormalities*
Cataract / complications
Child
Evoked Potentials, Visual
Eye / pathology*
Eye Abnormalities*
Female
Follow-Up Studies
Glaucoma / congenital
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Muscular Dystrophies / pathology*
Myopia / etiology
Optic Atrophy / etiology
Retinal Degeneration / etiology
Comments/Corrections
Comment In:
Brain Dev. 1995 Jan-Feb;17(1):62-3   [PMID:  7762766 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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