Document Detail


Unilateral retinitis pigmentosa: a proposal of genetic pathogenic mechanisms.
MedLine Citation:
PMID:  22139616     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To investigate and integrate anatomic and physiologic findings from a group of patients who present retinitis pigmentosa affecting just one eye and use this information to propose mechanisms of disease pathogenesis.
METHODS: This prospective cross-sectional study examined 5 patients, all female, from 8 to 60 years old. The study was conducted in 4 university hospitals. The patients were selected according to the characteristics of ocular involvement, notably unilateral presentation of similar anatomic and functional abnormalities. Full-field electroretinogram, fundus photography, fundus autofluorescence, infrared imaging, optical coherence tomography, and genetic testing were performed.
RESULTS: Full-field electroretinogram showed unilateral decrease in amplitude and increase in implicit time; autofluorescence showed unilateral areas of decreased intensity. The USH2AW4149R mutation was confirmed in one patient.
CONCLUSIONS: Imaging and functional testing are important in elucidating the unilateral pattern of the disease and in monitoring these individuals. Mosaicism or somatic mutation may cause unilateral genetic disease presentation.
Authors:
Marcela Marsiglia; Tobias Duncker; Enrico Peiretti; Scott E Brodie; Stephen H Tsang
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Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  European journal of ophthalmology     Volume:  22     ISSN:  1724-6016     ISO Abbreviation:  Eur J Ophthalmol     Publication Date:    2012 Jul-Aug
Date Detail:
Created Date:  2012-07-13     Completed Date:  2012-10-04     Revised Date:  2013-07-17    
Medline Journal Info:
Nlm Unique ID:  9110772     Medline TA:  Eur J Ophthalmol     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  654-60     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, Columbia University, New York, NY, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Biological Markers
Child
Clonal Evolution / genetics
Cross-Sectional Studies
DNA Mutational Analysis
Electroretinography
Eye Proteins / genetics
Female
Fluorescein Angiography
Genetic Markers
Humans
Middle Aged
Mosaicism
Photoreceptor Cells, Vertebrate / physiology
Prospective Studies
Retinitis Pigmentosa / diagnosis*,  genetics*,  physiopathology
Tomography, Optical Coherence
Grant Support
ID/Acronym/Agency:
R01 EY018213/EY/NEI NIH HHS; R01EY018213/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Biological Markers; 0/Eye Proteins; 0/Genetic Markers
Comments/Corrections

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