Document Detail

Recent progress in understanding congenital cranial dysinnervation disorders.
MedLine Citation:
PMID:  21317732     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: In 2002, the new term congenital cranial dysinnervation disorder (CCDD) was proposed as a substitute for the traditional concept of congenital fibrosis of the extraocular muscles (CFEOM) based on mounting genetic, neuropathologic, and imaging evidence, suggesting that many, if not all, of these disorders result from a primary neurologic maldevelopment rather than from a muscle abnormality. This report provides an update 8 years after that original report.
EVIDENCE ACQUISITION: Review of pertinent articles published from January 2003 until June 2010 describing CCDD variants identified under PubMed MeSH terms congenital fibrosis of the extraocular muscles, congenital cranial dysinnervation disorders, individual phenotypes included under the term CCDD, and congenital ocular motility disorders.
RESULTS: At present, a total of 7 disease genes and 10 phenotypes fall under the CCDD umbrella. A number of additional loci and phenotypes still await gene elucidation, with the anticipation that more syndromes and genes will be identified in the future. Identification of genes and their function, along with advances in neuroimaging, have expanded our understanding of the mechanisms underlying several anomalous eye movement patterns.
CONCLUSIONS: Current evidence still supports the concept that the CCDDs are primarily due to neurogenic disturbances of brainstem or cranial nerve development. Several CCDDs are now known to have nonophthalmologic associations involving neurologic, neuroanatomic, cerebrovascular, cardiovascular, and skeletal abnormalities.
Darren T Oystreck; Elizabeth C Engle; Thomas M Bosley
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society     Volume:  31     ISSN:  1536-5166     ISO Abbreviation:  J Neuroophthalmol     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-02-14     Completed Date:  2011-12-22     Revised Date:  2014-11-02    
Medline Journal Info:
Nlm Unique ID:  9431308     Medline TA:  J Neuroophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  69-77     Citation Subset:  IM    
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MeSH Terms
Developmental Disabilities / diagnosis*,  genetics,  physiopathology
Genetic Predisposition to Disease / genetics
Ocular Motility Disorders / diagnosis*,  genetics,  physiopathology
Grant Support
R01 EY012498/EY/NEI NIH HHS; R01 EY013583/EY/NEI NIH HHS; //Howard Hughes Medical Institute

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