Document Detail


Characterization of pupil responses to blue and red light stimuli in autosomal dominant retinitis pigmentosa due to NR2E3 mutation.
MedLine Citation:
PMID:  22807301     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Purpose: To characterize the pupil responses that reflect rod, cone and melanopsin function in a genetically homogeneous cohort of patients with autosomal dominant retinitis pigmentosa (adRP). Methods: Nine patients with Gly56Arg mutation of the NR2E3 gene and 12 control subjects were studied. Pupil and subjective visual responses to red and blue light flashes over a 7 log-unit range of intensities were recorded under dark- and light-adaptation. The pupil responses were plotted against stimulus intensity to obtain red-light and blue-light response curves. Results: In the dark-adapted blue-light stimulus condition, patients showed significantly higher threshold intensities for visual perception and for a pupil response compared to controls (p= 0.02 and p=0.006, respectively). The rod-dependent, blue-light pupil responses decreased with disease progression. In contrast, the cone-dependent pupil responses (light-adapted red-light stimulus condition) did not differ between patients and controls. The difference in the retinal sensitivity to blue and red stimuli was the most sensitive parameter to detect photoreceptor dysfunction. Unexpectedly, the melanopsin-mediated pupil response was decreased in patients (p=0.02).Conclusion: Pupil responses of patients with NR2E3-associated adRP demonstrate reduced retinal sensitivity to dim blue light under dark-adaptation, presumably reflecting decreased rod function. Rod-dependent pupil responses were quantifiable in all patients, including those with nonrecordable scotopic electroretinogram, and correlated with the extent of clinical disease. Thus the chromatic pupil light reflex can be used to monitor photoreceptor degeneration over a larger range of disease progression compared to standard electrophysiology.
Authors:
Aki Kawasaki; Sylvain V Crippa; Randy Kardon; Lorette Leon; Christian Hamel
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-17
Journal Detail:
Title:  Investigative ophthalmology & visual science     Volume:  -     ISSN:  1552-5783     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7703701     Medline TA:  Invest Ophthalmol Vis Sci     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Neuro-Ophthalmology Unit, University of Lausanne, Hopital Ophtalmique Jules Gonin, Avenue de France 15, Lausanne, 1003, Switzerland.
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