Document Detail


Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.
MedLine Citation:
PMID:  8415729     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A patient from a large kindred with adrenoleukodystrophy showed profound disturbance of color ordering, color matching, increment thresholds, and luminosity. Except for color matching, his performance was similar to blue-cone "monochromacy," an X chromosome-linked recessive retinal dystrophy in which color vision is dichromatic, mediated by the visual pigments of rods and short-wave-sensitive cones. Color matching, however, indicated that an abnormal rudimentary visual pigment was also present. This may reflect the presence of a recombinant visual pigment protein or altered regulation of residual pigment genes, due to DNA changes--deletion of the long-wave pigment gene and reorganized sequences 5' to the pigment gene cluster--that segregate with the metabolic defect in this kindred.
Authors:
M Alpern; G H Sack; D H Krantz; J Jenness; H Zhang; H W Moser
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  90     ISSN:  0027-8424     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  1993 Oct 
Date Detail:
Created Date:  1993-11-19     Completed Date:  1993-11-19     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  9494-8     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, University of Michigan, Ann Arbor 48109.
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MeSH Terms
Descriptor/Qualifier:
Adrenoleukodystrophy / genetics*,  physiopathology*
Color Perception / physiology*
Gene Rearrangement
Humans
Male
Sex Chromosome Aberrations / genetics
Time Factors
X Chromosome / ultrastructure
Grant Support
ID/Acronym/Agency:
EY00197-33/EY/NEI NIH HHS; HD-10981/HD/NICHD NIH HHS; HD24061/HD/NICHD NIH HHS
Comments/Corrections

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