Document Detail


A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".
MedLine Citation:
PMID:  15722315     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AIMS: To characterise the detailed phenotype of "cone dystrophy with supernormal rod ERG" in a case series of 10 patients. METHODS: 10 affected patients were examined clinically and underwent colour fundus photography, with nine undergoing detailed electrophysiological testing. Five patients were assessed further with fundus autofluorescence (AF) imaging, automated photopic and dark adapted perimetry, and dark adaptometry. Detailed colour vision assessment was performed in six subjects. Blood samples were taken from four patients for DNA extraction and mutation screening of NR2E3 was undertaken. RESULTS: The onset of symptoms was in the first and second decades of life. Subjects presented with reduced central vision and marked photophobia. All individuals were myopic and colour vision testing revealed severely reduced colour discrimination predominantly along the red-green axes; tritan colour vision was relatively well preserved. Nyctalopia is a later feature of the disorder. Funduscopy and AF imaging revealed a range of macular appearances. There was electrophysiological evidence of marked macular dysfunction, reduced and delayed cone responses, and supernormal and delayed rod responses. Photopic and dark adapted perimetry revealed central scotomata with widespread peripheral sensitivity loss. No disease causing sequence variants in NR2E3 were identified. CONCLUSIONS: The largest case series to date has been described of the clinical, psychophysical and electrophysiological characteristics of this unusual cone dystrophy with supernormal rod responses. Electrophysiological data were consistent with a post-phototransduction, but pre-inner nuclear layer, site of dysfunction. While the definitive diagnosis can only be made with electrophysiological testing, several characteristics that may increase suspicion of this diagnosis are presented.
Authors:
M Michaelides; G E Holder; A R Webster; D M Hunt; A C Bird; F W Fitzke; J D Mollon; A T Moore
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The British journal of ophthalmology     Volume:  89     ISSN:  0007-1161     ISO Abbreviation:  Br J Ophthalmol     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-02-21     Completed Date:  2005-05-09     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0421041     Medline TA:  Br J Ophthalmol     Country:  England    
Other Details:
Languages:  eng     Pagination:  332-9     Citation Subset:  IM    
Affiliation:
Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Color Vision Defects / complications
DNA Mutational Analysis
Electroretinography
Female
Fundus Oculi
Humans
Male
Myopia / complications
Orphan Nuclear Receptors
Perimetry
Phenotype
Photophobia / complications
Receptors, Cytoplasmic and Nuclear / genetics
Retinal Rod Photoreceptor Cells / physiopathology*
Retinitis Pigmentosa / complications,  physiopathology*,  psychology
Transcription Factors / genetics
Chemical
Reg. No./Substance:
0/NR2E3 protein, human; 0/Orphan Nuclear Receptors; 0/Receptors, Cytoplasmic and Nuclear; 0/Transcription Factors
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