Document Detail

Recent advances in hereditary disease and neuro-ophthalmology.
MedLine Citation:
PMID:  10160419     Owner:  NLM     Status:  MEDLINE    
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.
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    
University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.
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MeSH Terms
DNA-Binding Proteins / genetics
Eye Diseases, Hereditary / genetics*,  pathology
Nervous System Diseases / genetics*,  pathology
Oncogenes / genetics
Transcription Factors / genetics
Reg. No./Substance:
0/DNA-Binding Proteins; 0/Transcription Factors

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