April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Cone Cells Degenerate Progressively in Achromatopsia. An Imaging Study Using Spectral-Domain Optical Coherence Tomography
V. J. somervuo; A. A. H. J. Thiadens; S. Roosing; M. J. van Schooneveld; N. van Moll-Ramirez; I. van den Born; A. I. den Hollander; F. P. M. Cremers; C. B. Hoyng; C. C. W. Klaver
Author Affiliations & Notes
  • V. J. somervuo
    Department of Ophthalmology, University of Helsinki, Helsinki, Finland
    Ophthalmology, Human Genetics,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • A. A. H. J. Thiadens
    Ophthalmology, Human Genetics,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • S. Roosing
    Ophthalmology, Human Genetics,
    Raboud Univ Nijmegen Med Ctr, Nijmegen, The Netherlands
  • M. J. van Schooneveld
    Netherlands Institute of Neurosciences, Amsterdam, The Netherlands
  • N. van Moll-Ramirez
    Sensis, Centre for care, education and services for visually impaired people, Grave, The Netherlands
  • I. van den Born
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
  • A. I. den Hollander
    Ophthalmology, Human Genetics,
    Epidemiology, Ophthalmology,
    Raboud Univ Nijmegen Med Ctr, Nijmegen, The Netherlands
  • F. P. M. Cremers
    Ophthalmology, Human Genetics,
    Raboud Univ Nijmegen Med Ctr, Nijmegen, The Netherlands
  • C. B. Hoyng
    Epidemiology, Ophthalmology,
    Raboud Univ Nijmegen Med Ctr, Nijmegen, The Netherlands
  • C. C. W. Klaver
    Ophthalmology, Human Genetics,
    Epidemiology, Ophthalmology,
    Erasmus Medical Center, Rotterdam, The Netherlands
  • Footnotes
    Commercial Relationships  V.J. somervuo, None; A.A.H.J. Thiadens, None; S. Roosing, None; M.J. van Schooneveld, None; N. van Moll-Ramirez, None; I. van den Born, None; A.I. den Hollander, None; F.P.M. Cremers, None; C.B. Hoyng, None; C.C.W. Klaver, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 6298. doi:
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      V. J. somervuo, A. A. H. J. Thiadens, S. Roosing, M. J. van Schooneveld, N. van Moll-Ramirez, I. van den Born, A. I. den Hollander, F. P. M. Cremers, C. B. Hoyng, C. C. W. Klaver; Cone Cells Degenerate Progressively in Achromatopsia. An Imaging Study Using Spectral-Domain Optical Coherence Tomography. Invest. Ophthalmol. Vis. Sci. 2010;51(13):6298.

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Abstract

Purpose: : Achromatopsia (ACHM) is thought to be a stationary disorder with only a few causative genes. Gene therapy may become a future therapeutic option for this disease. In order to determine the time point for future therapy, we examined the presence of cone cells in ACHM as a function of age.

Methods: : We used the Spectralis Domain OCT (SD-OCT) to visualize the fovea of 40 ACHM patients of various ages and 55 healthy age-matched controls. Disease-causing mutations were investigated by direct sequencing of the CNGB3, CNGA3, and PDE6C genes. We estimated the risk of cone cell loss as a function of age with Kaplan-Meier product limit survival analysis.

Results: : Mutations were found in all patients. Absence of a foveal pit (fovea hypoplasia) was present in 24/30 (80%) of ACHM patients and 1/55 controls. The initial features of cone cell decay were disruption of the ciliary layer and the presence of a ‘bubble’ in the cone outer segments, followed by complete degeneration of the cone cell layer and retinal pigment epithelium. The risk of cone cell degeneration was 17 % by age 10; 60% by age 20, and 100% by age 40+.

Conclusions: : ACHM is not a stationary disease. In our study, the first signs of cone cell loss occurred at 8-10 yrs. At adult age, the majority of patients had undergone cone cell degeneration. The window of time for future gene therapy is the first decade.

Keywords: retinal degenerations: hereditary • imaging/image analysis: clinical • comparative anatomy 
© 2010, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2024 Association for Research in Vision and Ophthalmology.
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