Document Detail


Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.
MedLine Citation:
PMID:  6493699     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Twenty-three members of a 96-member family exhibited an autosomal dominant disorder which has not previously been described. This disorder involves progressive optic atrophy, abnormal electroretinography without retinal pigment changes, and progressive sensorineural hearing loss usually evident in the first or second decade of life. In midlife, ptosis, ophthalmoplegia, dystaxia, and a nonspecific myopathy occur.
Authors:
R L Treft; G E Sanborn; J Carey; M Swartz; D Crisp; D C Wester; D Creel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmology     Volume:  91     ISSN:  0161-6420     ISO Abbreviation:  Ophthalmology     Publication Date:  1984 Aug 
Date Detail:
Created Date:  1984-11-28     Completed Date:  1984-11-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7802443     Medline TA:  Ophthalmology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  908-15     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Ataxia / complications*
Blepharoptosis / complications*,  genetics
Child
Deafness / complications*
Female
Hearing Loss, Sensorineural / complications
Humans
Male
Middle Aged
Muscular Diseases / complications*
Ophthalmoplegia / complications*,  genetics
Optic Atrophy / complications*,  genetics
Pedigree
Syndrome

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


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