Document Detail

Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.
MedLine Citation:
PMID:  17148037     Owner:  NLM     Status:  MEDLINE    
Clarification and classification of the congenital form of blindness known as Leber congenital amaurosis (LCA) continues to provide its challenges and dilemmas. Until recently, seven genes have been identified that cause LCA. Clarifying the relation between LCA and associated neurological abnormalities such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome. This commentary explores the implications of this recent discovery and revisits the classification of LCA.
Elias I Traboulsi; Robert Koenekoop; Edwin M Stone
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Publication Detail:
Type:  Editorial    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  27     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2006 Dec 
Date Detail:
Created Date:  2006-12-06     Completed Date:  2007-01-23     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  113-5     Citation Subset:  IM    
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MeSH Terms
Antigens, Neoplasm / genetics
Blindness / classification,  congenital*,  diagnosis*,  genetics
DNA Mutational Analysis
Genetic Testing
Molecular Diagnostic Techniques*
Neoplasm Proteins / genetics
Nystagmus, Pathologic / congenital,  genetics
Retinal Degeneration / congenital,  genetics
Reg. No./Substance:
0/Antigens, Neoplasm; 0/Cep290 protein, human; 0/Neoplasm Proteins

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