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  • Novel non-sense mutation in RP2 (c.843_844insT/p.Arg282fs) is associated with a severe phenotype of retinitis pigmentosa without evidence of primary retinal pigment epithelium involvement

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Unusual association of diseases/symptoms
CASE REPORT
Novel non-sense mutation in RP2 (c.843_844insT/p.Arg282fs) is associated with a severe phenotype of retinitis pigmentosa without evidence of primary retinal pigment epithelium involvement
  1. Faye Horner,
  2. James Wawrzynski and
  3. Robert E MacLaren
  1. Nuffield Laboratory of Ophthalmology and Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
  1. Correspondence to Dr Faye Horner, faye.horner90{at}gmail.com

Abstract

Retinitis pigmentosa (RP) relates to a heterogeneous group of rod-cone dystrophies of varying genetic aetiology. There is currently great interest in gene replacement therapy. Phenotyping is of particular importance because some RP genes are expressed ubiquitously and it is critically important to understand which retinal layer is primarily affected. RP2 is increasingly diagnosed in patients suffering from X-linked RP, which causes outer retinal degeneration. We present a case of a previously unreported null mutation in RP2 associated with severe RP. Loss of the retinal pigment epithelium (RPE) was noted in the central macula but not around the disc or peripherally. There was therefore no evidence of independent degeneration of the RPE. Hence despite expression in all retinal cells, RP2 deficiency does not appear to be pathogenic to the RPE. This observation may be helpful in considering the promoter and route of delivery of adeno-associated viral gene therapy vectors encoding RP2.

  • ophthalmology
  • retina

https://doi.org/10.1136/bcr-2018-224451

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    Footnotes

    • FH and JW are joint first authors.

    • Contributors REM was responsible for the clinical care of the patient and for instigating genetic investigations. In addition, REM was responsible for supervising the writing of the manuscript. JW and FH were responsible for researching the patient’s previous medical history, family history and writing the manuscript.

    • Funding The genetic testing and publishing fees are funded by Oxford NIHR Biomedical Research Centre.

    • Competing interests REM is the scientific founder of Nightstar Therapeutics (a retinal gene therapy company) and is a named inventor on several retinal gene therapy patents licensed by the University of Oxford.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Correction notice This article has been corrected since it was published Online First. The author’s name has been changed from "Robert MacLaren" to "Robert E MacLaren", also the Funding and Competing Interests statements are included in the article.

    • Patient consent for publication Obtained.