July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
Retinitis pigmentosa caused by variants in SNRNP200
Author Affiliations & Notes
  • Imran H Yusuf
    Oxford University, Oxford, United Kingdom
    Oxford Eye Hospital, John Radcliffe Hospital, Oxford, United Kingdom
  • Johannes Birtel
    Department of Ophthalmology, University of Bonn, Bonn, Germany
  • Morag Shanks
    Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
  • Penny Clouston
    Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
  • Susan M. Downes
    Oxford Eye Hospital, John Radcliffe Hospital, Oxford, United Kingdom
    Oxford University, Oxford, United Kingdom
  • Peter Charbel Issa
    Oxford Eye Hospital, John Radcliffe Hospital, Oxford, United Kingdom
    Department of Ophthalmology, University of Bonn, Bonn, Germany
  • Robert E MacLaren
    Oxford University, Oxford, United Kingdom
    Oxford Eye Hospital, John Radcliffe Hospital, Oxford, United Kingdom
  • Footnotes
    Commercial Relationships   Imran Yusuf, None; Johannes Birtel, None; Morag Shanks, None; Penny Clouston, None; Susan Downes, None; Peter Charbel Issa, None; Robert MacLaren, Choroideremia Research Foundation (F), Euretina (S), Nightstar Therapeutics Inc. (E), Nightstar Therapeutics Inc. (P), Nightstar Therapeutics Inc. (F), Nightstar Therapeutics Inc. (I), Nightstar Therapeutics Inc. (C), Spark Therapeutics (C), University of Oxford (E), University of Oxford (P)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 4519. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Imran H Yusuf, Johannes Birtel, Morag Shanks, Penny Clouston, Susan M. Downes, Peter Charbel Issa, Robert E MacLaren; Retinitis pigmentosa caused by variants in SNRNP200 . Invest. Ophthalmol. Vis. Sci. 2019;60(9):4519.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : SNRNP200 is a gene recently identified as a cause of autosomal dominant retinitis pigmentosa (RP). The aim of this study was to report novel disease-associated variants and describe the retinal phenotype in patients with RP due to variants in SNRNP200, a gene encoding a ubiquitously expressed protein important in pre-mRNA splicing.

Methods : A cross-sectional descriptive study involving patients identified from two tertiary referral retinal genetics clinics. 9 consecutive patients from 8 families with RP attributed to variants in SNRNP200 were included. Genetic diagnoses were established with molecular genetic testing using targeted next-generation sequencing. All patients underwent full clinical ophthalmic evaluation, retinal imaging with spectral-domain optical coherence tomography, short wavelength fundus autofluorescence (Heidelberg Spectralis) and digital colour fundus photography.

Results : 9 patients were included in the study, 4 of whom were female, aged between 16 and 55 years of age. Each patient presented with symptoms and signs typical of a rod-cone dystrophy. Retinal imaging characteristics are presented in Figure 1. There was no suggestion of any systemic or syndromic features. Disease onset was commonly seen in childhood, although two patients experienced symptom onset in middle age (range 4 to 53 years). Progression of retinal degeneration was slow: 7 patients had a best corrected visual acuity of better than 20/40 in the better seeing eye at last follow-up (age 16 to 55), although two patients developed macular oedema. Molecular genetic testing revealed 2 novel variants (c.1547G>T p.(Cys516Phe) and c.2359G>A p.(Ala787Thr)) and 7 previously described variants in SNRNP200, all of which were missense variants. Both novel variants are well conserved, segregate with disease in affected families and are predicted to be disease causing in silico.

Conclusions : Variants in SNRNP200 result in non-syndromic rod-cone dystrophy characterized clinically by a variable age of symptom onset with a retinal phenotype typical of RP.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

 

Figure 1. Retinal imaging characteristics of patients with RP attributed to variants in SNRNP200. Colour fundus photographs, short-wavelength autofluorescence and spectral-domain optical coherence tomography images are presented for the right eyes of 6 patients. The disease-causing variant in SNRNP200, age of onset, age at the time of imaging and best corrected visual acuity data are stated.

Figure 1. Retinal imaging characteristics of patients with RP attributed to variants in SNRNP200. Colour fundus photographs, short-wavelength autofluorescence and spectral-domain optical coherence tomography images are presented for the right eyes of 6 patients. The disease-causing variant in SNRNP200, age of onset, age at the time of imaging and best corrected visual acuity data are stated.

×
×

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.

×