Document Detail

Color matching and foveal densitometry in patients and carriers of an X-linked progressive cone dystrophy.
MedLine Citation:
PMID:  2256842     Owner:  NLM     Status:  MEDLINE    
We describe a family with an as yet undescribed form of X-linked progressive cone dystrophy in a five-generation pedigree, from which we report here the results of 17 male patients and 31 obligate and 13 possible female carriers. The affected males showed the characteristic picture of cone dystrophy. Foveal cone photopigment density was impaired (judged from anomaloscope settings and foveal densitometry), even at an early stage of the disease. The carriers showed no fundus abnormalities, except occasional changes due to myopia. The anomaloscope demonstrated mild pseudoprotanomaly in 27 of 31 obligate carriers and in six of 13 possible carriers. Foveal densitometry findings performed in 11 carriers always agreed with the anomaloscope findings. We conclude that the findings of pseudoprotanomaly and abnormal density differences in females of this family were the only ocular abnormalities and thus are indicative of the carrier state.
J E Keunen; J A van Everdingen; L N Went; J A Oosterhuis; D van Norren
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of ophthalmology     Volume:  108     ISSN:  0003-9950     ISO Abbreviation:  Arch. Ophthalmol.     Publication Date:  1990 Dec 
Date Detail:
Created Date:  1991-01-18     Completed Date:  1991-01-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7706534     Medline TA:  Arch Ophthalmol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1713-9     Citation Subset:  AIM; IM    
E. C. Donders Institute of Ophthalmology, State University, Utrecht, the Netherlands.
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MeSH Terms
Color Perception*
Fluorescein Angiography
Fovea Centralis / physiopathology*
Retinitis Pigmentosa / genetics*,  physiopathology
Visual Fields
X Chromosome*

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