May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
S-Cone Dystrophy in Tritan Color-Vision Deficiency Revealed by Adaptive-Optics Retinal Imaging
Author Affiliations & Notes
  • R. C. Baraas
    Optometry & Visual Science, Buskerud University College, Kongsberg, Norway
  • J. Carroll
    Department of Ophthalmology, The Medical College of Wisconsin, Milwaukee, Wisconsin
  • K. L. Gunther
    Department of Ophthalmology, The Medical College of Wisconsin, Milwaukee, Wisconsin
  • M. Chung
    Department of Ophthalmology,
    University of Rochester, Rochester, New York
  • D. R. Williams
    Center for Visual Science,
    University of Rochester, Rochester, New York
  • D. H. Foster
    School of Electrical and Electronic Engineering, University of Manchester, Manchester, United Kingdom
  • M. Neitz
    Department of Ophthalmology, The Medical College of Wisconsin, Milwaukee, Wisconsin
  • Footnotes
    Commercial Relationships R.C. Baraas, None; J. Carroll, None; K.L. Gunther, None; M. Chung, None; D.R. Williams, None; D.H. Foster, None; M. Neitz, None.
  • Footnotes
    Support This work was supported by the Wellcome Trust (Grant No. 064669/Z/01/Z), NIH (Grant No. EY04367, EY09303 and EY09620, and F32EY014789 (KLG)), and by Research to Prevent Blindness.
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 3180. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      R. C. Baraas, J. Carroll, K. L. Gunther, M. Chung, D. R. Williams, D. H. Foster, M. Neitz; S-Cone Dystrophy in Tritan Color-Vision Deficiency Revealed by Adaptive-Optics Retinal Imaging. Invest. Ophthalmol. Vis. Sci. 2007;48(13):3180. doi: https://doi.org/.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose:: Tritan color-vision deficiency is an autosomal dominant disorder associated with amino-acid substitutions in the S-cone-pigment gene that are predicted to perturb the structure or stability of the S-cone pigment. The aim of this work was to determine whether the loss of S-cone function is accompanied by physical disruption of the cone mosaic.

Methods:: An adaptive-optics ophthalmoscope was used to image the cone mosaic of a 56-year-old male and his 33-year-old daughter, each having a novel mutation (R283Q) in one of their S-cone pigment genes. The density and regularity of the cone mosaic of each subject was compared with that of normal controls. Subjects also performed standard color-vision tests and surface-color matching under different illuminants.

Results:: The father’s behavior on all color-vision tests was characteristic of a tritanope, whereas the daughter made only mild tritan errors. His surface-color judgments were also characteristic of a tritanope. Retinal imaging revealed different S-cone mosaics consistent with their discrepant phenotypes: no evidence for S cones was found in the retinal images from the father, whereas the daughter had normal S-cone density. Voronoi and nearest-neighbor analyses showed that the father’s mosaic was significantly more irregular than of normal controls.

Conclusions:: The absence of S-cones coupled with the abnormal packing arrangement of the remaining cones in the 56-year-old tritan suggests that heterozygosity for the R283Q mutation ultimately results in the death of S-cones. It is hypothesized that the phenotypic difference between the father and daughter with the same mutation is due to their being at different stages in a progression where dominant negative interactions compromise the function and viability of S-cones.

Keywords: color vision • retinal degenerations: hereditary • 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.

×