May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Clinical Classification of Autosomal Dominant Cystoid Macular Edema and Genetic Fine Mapping of the Underlying Defect
J.J. Van Lith-Verhoeven; M.A. van Driel; I.C. Meij; L. van Laer; A.J. Pinckers (+); H. Kremer; A.F. Deutman; H.G. Brunner; F.P. Cremers; C.B. Hoyng
Author Affiliations & Notes
  • J.J. Van Lith-Verhoeven
    Ophthalmology, University Medical Center Nijmegen, Nijmegen, Netherlands
  • M.A. van Driel
    Human Genetics, University Medical Center Nijmegen, Nijmegen, Netherlands
  • I.C. Meij
    Human Genetics, University Medical Center Nijmegen, Nijmegen, Netherlands
  • L. van Laer
    Medical Genetics, University of Antwerp, Antwerp, Belgium
  • A.J. Pinckers (+)
    Medical Genetics, University of Antwerp, Antwerp, Belgium
  • H. Kremer
    Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, Netherlands
  • A.F. Deutman
    Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, Netherlands
  • H.G. Brunner
    Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, Netherlands
  • F.P. Cremers
    Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, Netherlands
  • C.B. Hoyng
    Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, Netherlands
  • Footnotes
    Commercial Relationships  J.J. Van Lith-Verhoeven, None; M.A. van Driel, None; I.C. Meij, None; L. van Laer, None; A.J.L.G. Pinckers (+), None; H. Kremer, None; A.F. Deutman, None; H.G. Brunner, None; F.P.M. Cremers, None; C.B. Hoyng, None.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1496. doi:
  • Views
  • Share
  • Tools
    • Alerts
      User Alerts
      You are adding an alert for:
      Clinical Classification of Autosomal Dominant Cystoid Macular Edema and Genetic Fine Mapping of the Underlying Defect
      You will receive an email whenever this article is corrected, updated, or cited in the literature. You can manage this and all other alerts in My Account
      The alert will be sent to:
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation
      Citation

      J.J. Van Lith-Verhoeven, M.A. van Driel, I.C. Meij, L. van Laer, A.J. Pinckers (+), H. Kremer, A.F. Deutman, H.G. Brunner, F.P. Cremers, C.B. Hoyng; Clinical Classification of Autosomal Dominant Cystoid Macular Edema and Genetic Fine Mapping of the Underlying Defect . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1496.

      Download citation file:

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

      ×
    • Get Permissions
  • Supplements
Abstract

Abstract: : Purpose:To make a clinical classification for autosomal dominant cystoid macular edema (CYMD) and to refine the genetic localisation of the CYMD locus. Methods: Seventy-one members of a large Dutch CYMD family were clinically, angiographically and electrophysiologically investigated. The CYMD locus had previously been positioned in a 20-cM interval at 7p15-p21. Using an extended DNA marker set, haplotype analysis was performed, employing DNA of 135 family members. Results: We propose a clinical classification for CYMD into three stages, based on ophthalmoscopic and fluorescein angiographic findings. The genetic analysis revealed informative recombinations and enabled us to establish a shared haplotype refining the critical region to a 3.8 cM/2.0 Mb interval between the markers D7S493 and D7S673 at 7p15.3. This interval contains 11 genes with a known or inferred function and 19 predicted genes. We could not identify mutations in the open reading frame of four genes: interleukin-6 (IL6), nucleoporin-like protein 1 (NLP-1), glycoprotein neuromedin B (GPNMB) and LOC90693, which codes for alpha-1,3(6)-mannosylglycoprotein. Conclusions: CYMD is divided in three clinical stages and the genetic locus is refined to a 3.8 cM interval at 7p15.3. No mutation was found in the open reading frame of four positional candidate genes.

Keywords: macula/fovea • retinal degenerations: hereditary • candidate gene analysis 
© 2003, 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.
×
×

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.

×
This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy.Accept