June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
A novel heterozygote E2331* mutation in PRPF8 gene causes a severe phenotype of Retinitis Pigmentosa with early loss of visual acuity
Author Affiliations & Notes
  • Olga Passarin
    Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
  • Francis Munier
    Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
  • Viet Tran
    Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
  • Daniel Schorderet
    Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
  • Veronika Vaclavik
    Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
    Ophthalmology, Hopitaux Universitaires de Genève, Geneva, Switzerland
  • Footnotes
    Commercial Relationships Olga Passarin, None; Francis Munier, None; Viet Tran, None; Daniel Schorderet, None; Veronika Vaclavik, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 690. doi:https://doi.org/
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      Olga Passarin, Francis Munier, Viet Tran, Daniel Schorderet, Veronika Vaclavik; A novel heterozygote E2331* mutation in PRPF8 gene causes a severe phenotype of Retinitis Pigmentosa with early loss of visual acuity. Invest. Ophthalmol. Vis. Sci. 2013;54(15):690. doi: https://doi.org/.

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

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Abstract

Purpose: To report a novel mutation E2331* in exon 42 of the PRPF8 gene in 2 generation family with severe form of retinitis pigmentosa.

Methods: Two affected patients (a father and his daughter, aged 60 and 28 years) and the unaffected grandparents were assessed with a complete ophthalmologic examination. All had fundus autofluorescence images, standardised electroretinography, Goldmann visual fields and Optical Coherence Tomography. Blood sample was taken for molecular analysis.

Results: The affected patients were severely affected at a young age with early macular involvement. The 28 years old daughter visual acuity of 0.2 according to Snellen EDTRS chart bilaterally. The father’s visual acuity was hand movement. Both had evidence of macular early cone dysfunction, as measured by full field ERGs and autofluorescence imaging. The unaffected grand father was negative for the mutation.

Conclusions: We report a novel E2331* mutation in exon 42 of the PRPF8, which is a rare cause of adRP. Our descriptions report severe phenotype with early macular atrophy, unlike previous reports, although the mutation occurs in the same exon 42, as most of mutations. This finding assist in understanding the pathogenesis of this disorder.

Keywords: 696 retinal degenerations: hereditary • 539 genetics • 648 photoreceptors  
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