May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Mutation Analysis of CRB1 in Patients With Retinitis Pigmentosa, Leber Congenital Amaurosis and Classic Coats Disease
A.I. Den Hollander; S.D. van der Velde-Visser; M. Zonneveld; R.K. Koenekoop; U. Kellner; I.L. van den Born; J.R. Heckenlively; C.B. Hoyng; F.P. Cremers
Author Affiliations & Notes
  • A.I. Den Hollander
    Dept of Human Genetics, University Hospital Nijmegen, Nijmegen, Netherlands
  • S.D. van der Velde-Visser
    Dept of Human Genetics, University Hospital Nijmegen, Nijmegen, Netherlands
  • M. Zonneveld
    Dept of Human Genetics, University Hospital Nijmegen, Nijmegen, Netherlands
  • R.K. Koenekoop
    Montreal Children's Hospital, McGill University, Montreal, PQ, Canada
  • U. Kellner
    Department of Ophthalmology, University Clinic Benjamin Franklin, Berlin, Germany
  • I.L. van den Born
    Rotterdam Eye Hospital, Rotterdam, Netherlands
  • J.R. Heckenlively
    Jules Stein Eye Institute, UCLA Medical Center, Los Angeles, CA, United States
  • C.B. Hoyng
    Dept of Ophthalmology, University Hospital Nijmegen, Nijmegen, Netherlands
  • F.P. Cremers
    Dept of Ophthalmology, University Hospital Nijmegen, Nijmegen, Netherlands
  • Footnotes
    Commercial Relationships  A.I. Den Hollander, None; S.D. van der Velde-Visser, None; M. Zonneveld, None; R.K. Koenekoop, None; U. Kellner, None; I.L. van den Born, None; J.R. Heckenlively, None; C.B. Hoyng, None; F.P.M. Cremers, None.
  • Footnotes
    Support  Foundation Fighting Blindness
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 2309. doi:
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      A.I. Den Hollander, S.D. van der Velde-Visser, M. Zonneveld, R.K. Koenekoop, U. Kellner, I.L. van den Born, J.R. Heckenlively, C.B. Hoyng, F.P. Cremers; Mutation Analysis of CRB1 in Patients With Retinitis Pigmentosa, Leber Congenital Amaurosis and Classic Coats Disease . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2309.

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Abstract

Abstract: : Purpose: Previously, we identified the CRB1 gene and found mutations in patients with retinitis pigmentosa type 12 (RP12), characterized by preserved para-arteriolar retinal pigment epithelium (PPRPE), in patients with Leber congenital amaurosis (LCA), and in RP patients with Coats-like exudative vasculopathy. We performed mutation analysis on additional RP patients with PPRPE and/or Coats-like exudative vasculopathy and LCA patients. In addition, we screened a panel of ‘classic' RP patients, and patients with classic Coats disease. Methods: Mutation analysis was performed on DNA samples of 97 Dutch patients with ‘classic' RP, 44 Canadian LCA patients and 18 patients with classic Coats disease by single-stranded conformational analysis (SSCA) using primer sets to amplify exons 1-12 of the CRB1 gene. DNA samples of RP patients with PPRPE and/or Coats-like exudative vasculopathy were screened by sequencing. Results: We identified CRB1 mutations in 21 of 31 (68%) RP patients with PPRPE, in 4 of 7 (57%) RP patients with PPRPE and Coats-like exudative vasculopathy, and in 3 of 9 (33%) ‘classic' RP patients with Coats-like exudative vasculopathy. In 97 ‘classic' RP patients we identified CRB1 mutations in only 1 (1%) patient. In 44 Canadian LCA patients we identified CRB1 mutations in only 1 (2%) patient, while we had previously identified CRB1 mutations in 7 of 52 (13%) LCA patients, predominantly of German origin. No mutations were detected in patients with classic Coats disease. Conclusions: CRB1 mutations are an important cause of RP with PPRPE and/or Coats-like exudative vasculopathy, but not of ‘classic' RP. RP with PPRPE and/or Coats-like exudative vasculopathy are genetically heterogeneous, since we did not detect CRB1 mutations in all patients. The frequency of CRB1 mutations is considerably lower in Canadian than in German LCA patients.

Keywords: candidate gene analysis • genetics • retina 
© 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.
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