Document Detail


Recent advances in hereditary disease and neuro-ophthalmology.
MedLine Citation:
PMID:  10160419     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Recent advances in genetics tend to center on the discoveries of molecular biology. A disease is first linked to a region on a chromosome, a gene is later cloned, or a candidate gene identified, point mutations described, phenotype-genotype correlations made, and rationales for treatment proposed. Several neuro-ophthalmological diseases have recently been studied in this way; including Leber's hereditary optic neuropathy and other mitochondrial diseases, autosomal dominant (Kjer) optic atrophy, Wolfram syndrome, or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), Usher syndrome, neurofibromatosis types I and II, and two disorders of the paired box genes: aniridia and Waardenburg's syndrome. Apart from molecular biology there are still some new disease entities being described and new inheritance patterns identified for some syndromes, such as periodic alternating nystagmus.
Authors:
D A Mackey
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current opinion in ophthalmology     Volume:  6     ISSN:  1040-8738     ISO Abbreviation:  Curr Opin Ophthalmol     Publication Date:  1995 Dec 
Date Detail:
Created Date:  1996-10-23     Completed Date:  1996-10-23     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9011108     Medline TA:  Curr Opin Ophthalmol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  48-53     Citation Subset:  T    
Affiliation:
University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.
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MeSH Terms
Descriptor/Qualifier:
DNA-Binding Proteins / genetics
Eye Diseases, Hereditary / genetics*,  pathology
Humans
Nervous System Diseases / genetics*,  pathology
Oncogenes / genetics
Transcription Factors / genetics
Chemical
Reg. No./Substance:
0/DNA-Binding Proteins; 0/Transcription Factors

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


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