April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Quantitative Fundus Autofluorescence in Patients with Peripherin 2 (PRPH2/RDS) Mutations
Author Affiliations & Notes
  • Francois C Delori
    Schepens Eye Research Institute, Boston, MA
  • Tobias Duncker
    Ophthalmology, Columbia University, New York, NY
  • Rando Allikmets
    Ophthalmology, Columbia University, New York, NY
  • Carolyn Cai
    Ophthalmology, Columbia University, New York, NY
  • Russell L Woods
    Schepens Eye Research Institute, Boston, MA
  • Stephen H Tsang
    Ophthalmology, Columbia University, New York, NY
  • Janet R Sparrow
    Ophthalmology, Columbia University, New York, NY
  • Footnotes
    Commercial Relationships Francois Delori, None; Tobias Duncker, None; Rando Allikmets, None; Carolyn Cai, None; Russell Woods, None; Stephen Tsang, None; Janet Sparrow, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 1422. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Francois C Delori, Tobias Duncker, Rando Allikmets, Carolyn Cai, Russell L Woods, Stephen H Tsang, Janet R Sparrow; Quantitative Fundus Autofluorescence in Patients with Peripherin 2 (PRPH2/RDS) Mutations. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1422. doi: https://doi.org/.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract
 
Purpose
 

To report quantitative fundus autofluorescence (qAF) in patients with confirmed mutations in peripherin 2 (PRPH2/RDS).

 
Methods
 

PRPH2/RDS mutations were identified by direct Sanger sequencing in 6 patients (mean age of 48.7 years; range: 30-62 years) from 4 unrelated families. AF images (30°, 488 nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. For each image, gray levels (GLs) were measured in predefined fundus areas and calibrated to the reference, zero GL, magnification, and normative optical media density, to yield qAF. In addition, texture factor (TF) was measured in the same fundus areas as a metric of AF inhomogeneity.

 
Results
 

Fundus AF images had features ranging from unremarkable to varying densities of flecks and mottling and some patients exhibited geographic atrophy. Noticeably, the peripapillary area was spared in all subjects. Mixed-effects linear regression, which accounted for within-subject correlations between eyes and between close family members, indicated that qAF (p<0.001) and TF (p<0.001) in RDS eyes were elevated compared to healthy eyes. The spatial distribution of the AF signal appeared different from healthy eyes with the inferior side being relatively higher than in healthy subjects.

 
Conclusions
 

The qAF method, an indirect measure of RPE lipofuscin, revealed increased qAF levels in patients with RDS mutations. The mechanism by which RPE lipofuscin is increased in the presence of an RDS mutation is not known nor is it understood whether elevated lipofuscin is a component of the primary disease process.

 
Keywords: 696 retinal degenerations: hereditary • 582 ipofuscin • 550 imaging/image analysis: clinical  
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×