May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Analysis of the RDS/Peripherin Gene in Macular Dystrophies
Author Affiliations & Notes
  • C.J. Boon
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Department of Ophthalmology,
  • A.I. den Hollander
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Department of Human Genetics,
    Nijmegen Centre for Molecular Life Sciences,
  • B.J. Klevering
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Department of Ophthalmology,
  • M.N. Zonneveld
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Department of Human Genetics,
    Nijmegen Centre for Molecular Life Sciences,
  • M.J. van Schooneveld
    Department of Ophthalmology, Utrecht University Medical Centre, Utrecht, The Netherlands
  • F.P. M. Cremers
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Department of Human Genetics,
    Nijmegen Centre for Molecular Life Sciences,
  • C.B. Hoyng
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Department of Ophthalmology,
  • Footnotes
    Commercial Relationships  C.J. Boon, None; A.I. den Hollander, None; B.J. Klevering, None; M.N. Zonneveld, None; M.J. van Schooneveld, None; F.P.M. Cremers, None; C.B. Hoyng, None.
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 5809. doi:
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      C.J. Boon, A.I. den Hollander, B.J. Klevering, M.N. Zonneveld, M.J. van Schooneveld, F.P. M. Cremers, C.B. Hoyng; Analysis of the RDS/Peripherin Gene in Macular Dystrophies . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5809.

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

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Abstract

Purpose: : To date, 81 mutations in the RDS/peripherin gene have been reported in various retinal dystrophies. The purpose of this study was to analyse the RDS/peripherin gene in a group of patients with macular dystrophies and to perform detailed clinical examinations in these patients.

Methods: : Sequence analysis of RDS/peripherin. Ophthalmological examination included fundoscopy, fluorescein angiography, autofluorescence imaging and optical coherence tomography.

Results: : In a group of 55 patients with different clinical types of macular dystrophies, four new mutations in RDS/peripherin were identified. In a patient with pattern dystrophy and fundus flavimaculatus–like spots, a 432_433delAG deletion was found. A 163delT deletion in exon 1 was shown in two patients with autosomal dominant macular dystrophy and characteristics of fundus flavimaculatus. In a patient with butterfly shaped macular dystrophy, a 658delC deletion was found in exon 2. A patient with central areolar choroidal dystrophy (CACD) was shown to carry a R172Q–mutation. The R142W mutation as described by Hoyng et al. (Am J Ophthalmol 1996 Jun;121(6):623–9) was found in 10 patients with CACD, and we report a case of non–penetrance.

Conclusions: : The novel mutations in RDS/peripherin are associated with various macular dystrophies. To the best of our knowledge, we describe the first case of non–penetrance in a patient with the R142W mutation.

Keywords: macula/fovea • gene screening 
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