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Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31
  1. S Ghazawy1,
  2. K Springell2,
  3. V Gauba3,
  4. M A McKibbin3,
  5. C F Inglehearn4
  1. 1
    Department of Ophthalmology, St. James’s University Hospital, Leeds, UK
  2. 2
    Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK
  3. 3
    Department of Ophthalmology, St. James’s University Hospital, Leeds, UK
  4. 4
    Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK
  1. S Ghazawy, Department of Ophthalmology, St. James’s University Hospital, Beckett St., Leeds LS9 7TF, UK; sam.g{at}doctors.org.uk

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Autosomal dominant retinitis pigmentosa results from mutations in 14 known proteins, and at least two further loci have been highlighted by genetic linkage in families (reviewed by the RetNet website; http://www.sph.uth.tmc.edu/Retnet/). The known genes include those encoding components of the phototransduction cascade, retinal transcription factors and retinal structural proteins.1 The list also includes four ubiquitously expressed splicing factors: pre-mRNA processing factor 8 (PRPF8),2 PRPF31,3 PRPF34 and PAP-1, also known as RP9.5 6

Splicing is a complex process that involves the precise excision of introns from pre-mRNA by a macromolecular structure called the spliceosome. Three of the splicing factors implicated in autosomal dominant retinitis pigmentosa (ADRP) are components of the U4/U6-U5 tri-snRNP particle, an essential component of the spliceosome.7 8 Mutations in one of these, PRPF31, have been reported to cause between 5 and 20% of ADRP.9 10 In this report, a new mutation in the PRPF31 gene is described, together with the clinical phenotype.

Cases

The proband was a 33-year-old female with a corrected visual acuity of 58 and 51 ETDRS letters in the right and left eye, respectively (approximate Snellen equivalents of 6/18 and 6/36). She had a myopic refraction with a spherical equivalence of −2 dioptres in each eye. Nyctalopia had been present since the middle of the second decade, and she had noticed a decrease in her central vision since the beginning of the third decade. At the most recent examination, she had early …

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