Document Detail


Autosomal recessive incomplete achromatopsia with protan luminosity function.
MedLine Citation:
PMID:  309579     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A unique form of dichromatic color vision is described in a family with incomplete achromatopsia. In 1966, incomplete achromatopsia was diagnosed in 4 of 14 children of a consanguineous marriage. The 4 affected had best visual acuities of 6/60 or 6/180, pendular nystagmus, and aversion to bright lights. The ERG showed minimal photopic responses. No abnormality of rod function was present. There was a severe color vision defect. In 1976, one of the patients returned for further color testing. Color tests included measurement of the luminous efficiency function using heterochromatic flicker photometry and colorimetric evaluation. The luminous efficiency function resembled that of the protanope. From the colorimetric measurements, we conclude that the patient has a unique form of dichromatic color vision mediated by two visual photopigments: the normal MWS cone photopigment and a photopigment with the spectral characteristics of rhodopsin.
Authors:
V C Smith; J Pokorny; F W Newell
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde     Volume:  177     ISSN:  0030-3755     ISO Abbreviation:  Ophthalmologica     Publication Date:  1978  
Date Detail:
Created Date:  1979-01-26     Completed Date:  1979-01-26     Revised Date:  2007-09-17    
Medline Journal Info:
Nlm Unique ID:  0054655     Medline TA:  Ophthalmologica     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  197-207     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Color Perception Tests
Color Vision Defects / genetics*
Consanguinity
Dark Adaptation
Electrooculography
Electroretinography
Genes, Recessive
Humans
Psychological Tests

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


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