Document Detail

Unilateral retinitis pigmentosa: a proposal of genetic pathogenic mechanisms.
MedLine Citation:
PMID:  22139616     Owner:  NLM     Status:  MEDLINE    
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.
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    
Department of Ophthalmology, Columbia University, New York, NY, USA.
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MeSH Terms
Biological Markers
Clonal Evolution / genetics
Cross-Sectional Studies
DNA Mutational Analysis
Eye Proteins / genetics
Fluorescein Angiography
Genetic Markers
Middle Aged
Photoreceptor Cells, Vertebrate / physiology
Prospective Studies
Retinitis Pigmentosa / diagnosis*,  genetics*,  physiopathology
Tomography, Optical Coherence
Grant Support
Reg. No./Substance:
0/Biological Markers; 0/Eye Proteins; 0/Genetic Markers

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