June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
PRPH2 Mutations as a Cause of Electronegative ERG
Author Affiliations & Notes
  • Rola Ba-Abbad
    Electrophysiology, Moorfields Eye Hospital, London, United Kingdom
    Visual Neuroscience, Institute of Ophthalmology, London, United Kingdom
  • Anthony Robson
    Electrophysiology, Moorfields Eye Hospital, London, United Kingdom
    Genetics, Institute of Ophthalmology, London, United Kingdom
  • Anthony Moore
    Medical Retina & Genetics, Moorfields Eye Hospital, London, United Kingdom
    Genetics, Institute of Ophthalmology, London, United Kingdom
  • Andrew Webster
    Medical Retina & Genetics, Moorfields Eye Hospital, London, United Kingdom
    Genetics, Institute of Ophthalmology, London, United Kingdom
  • Yew Chong Yap
    Medical Retina & Genetics, Moorfields Eye Hospital, London, United Kingdom
  • Graham Holder
    Electrophysiology, Moorfields Eye Hospital, London, United Kingdom
    Visual Neuroscience, Institute of Ophthalmology, London, United Kingdom
  • Footnotes
    Commercial Relationships Rola Ba-Abbad, None; Anthony Robson, None; Anthony Moore, None; Andrew Webster, None; Yew Chong Yap, None; Graham Holder, Servier (C)
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 5109. doi:
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    • Get Citation

      Rola Ba-Abbad, Anthony Robson, Anthony Moore, Andrew Webster, Yew Chong Yap, Graham Holder; PRPH2 Mutations as a Cause of Electronegative ERG. Invest. Ophthalmol. Vis. Sci. 2013;54(15):5109.

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

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Abstract

Purpose: To describe the phenotypic and genotypic features in patients with Peripherin-2 (PRPH2) mutation and negative electroretinograms.

Methods: Retrospective observational case series. Records of patients with dominantly inherited maculopathy, confirmed molecular diagnosis of PRPH2 mutations, and an electronegative ERG under either photopic or scotopic conditions were identified from a larger cohort in a specialized electrophysiology unit at a tertiary eye care hospital. Data examined included clinical history and retinal images, electrophysiology and mutational analysis.

Results: Five patients were identified. All had presented with clinically evident maculopathy and Snellen visual acuities in the range of 6/6-6/36. All had negative electroretinograms in scotopic or photopic ERGs or both. Three patients were heterozygous for a common missense mutation c.514C>T, p.R172W; 2 were heterozygous for frame-shifting mutations including one with a c.259_266del8, p.D87fs, and a novel c.394delC, p.Q132fs deletion.

Conclusions: Dominantly inherited maculopathy due to PRPH2 mutation can be associated with negative electroretinograms. This novel finding is not mutation-specific, and does not relate to the severity of the disease. The data add to the documented phenotypical variability of PRPH2 mutations and represent a further cause of negative ERG.

Keywords: 509 electroretinography: clinical • 696 retinal degenerations: hereditary  
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