March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
Phenotype/genotype Correlation Associated With A Novel Nonsense Glu20stop Mutation In The Rp2 Gene In A Three-generation Family With X-linked Retinitis Pigmentosa
Author Affiliations & Notes
  • Veronika Vaclavik
    Hopital Opthalmique Jules Gonin Lausanne, Lausanne, Switzerland
    Service Ophtalmology HUG, Geneva, Switzerland
  • Francis L. Munier
    Hopital Opthalmique Jules Gonin Lausanne, Lausanne, Switzerland
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
  • Viet H. Tran
    Hopital Opthalmique Jules Gonin Lausanne, Lausanne, Switzerland
  • Daniel F. Schorderet
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
    Hopital Optalmique Jules Gonin Lausanne,, Lausanne, Switzerland
  • Footnotes
    Commercial Relationships  Veronika Vaclavik, None; Francis L. Munier, None; Viet H. Tran, None; Daniel F. Schorderet, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 4547. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Veronika Vaclavik, Francis L. Munier, Viet H. Tran, Daniel F. Schorderet; Phenotype/genotype Correlation Associated With A Novel Nonsense Glu20stop Mutation In The Rp2 Gene In A Three-generation Family With X-linked Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4547.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose: : To assess the phenotype of patients in a large 3 generation Swiss family with X-linked retinitis pigmentosa (XLRP) due to a novel nonsense mutation Glu20stop in RP2 gene and to correlate with the genotype.

Methods: : 6 affected patients (1 male, 5 females, age range: 23 - 73 years) were assessed with a complete ophthalmologic examination. All had fundus autofluorescence images, standardised electroretinography, Goldmann visual fields and Optical Coherence Tomography. In addition, medical records of 2 affected male patients were reviewed. Blood sample was taken for molecular analysis.

Results: : The male patients were severely affected at a young age with early macular involvement. The youngest 23 y old male had also high myopia and vision of less than 0.05 according to Snellen EDTRS chart bilaterally. All 5 female carriers had some degree of rod-cone dystrophy, but no macular involvement. The visual acuity was 1.0 in the younger carriers, while the 73 years old had VA of 0.5. Two females had mild myopia (range -0.75 to -2) and one had anisometropia of 3.5D, with the more severely affected eye being myopic. Three out of 5 female carriers had optic nerve drusen.

Conclusions: : We report a novel Glu20stop mutation in RP2 gene, which is a rare cause of XLRP. Our description of severe phenotype in male patients with high myopia and early macular atrophy confirms previous reports. Unlike previous reports, all our female carriers had RP, but not macular involvement or high myopia. The identifiable phenotype for RP2-XLRP aids in clinical diagnosis and targeted genetic screening.

Keywords: genetics • retinal degenerations: hereditary • mutations 
×
×

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.

×