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
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:
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      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.

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

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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 
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