Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa
- 169 Downloads
To assess the long-term clinical course of 2 patients with PRPF31-related retinitis pigmentosa (RP).
Patients and methods
We clinically examined 2 unrelated patients with RP and collected peripheral blood samples from them. Ophthalmic examinations, including best-corrected visual acuity measurements, Goldmann perimetry, full-field electroretinography, fundus autofluorescence imaging, and optical coherence tomography, were also performed. The visual acuity and visual field were continuously monitored. To identify the causative mutations, 74 genes known to cause RP or Leber congenital amaurosis were examined via targeted next-generation sequencing.
The clinical courses of both patients were similar. The onset of nyctalopia occurred in the first decade. Fundus examination showed typical RP. Although the patients’ visual acuity was relatively preserved even into the fourth decade, the visual field area exhibited rapid deterioration in the mid-teens, with severe concentric constriction in the third decade. Mutation analysis revealed PRPF31 mutations as the cause for autosomal dominant RP in both patients.
To the best of our knowledge, few reports of long-term observations pertaining to patients with PRPF31-related RP have been published. The findings reported herein, especially those relating to the progressive degeneration of the visual field, may ultimately play a role in the provision of high-quality counseling for patients with this condition.
KeywordsVisual outcome Retinitis pigmentosa PRPF31 Visual field
The authors would like to thank Editage (https://www.editage.jp/) for English language editing. This work was supported by a grant for Initiative on Rare and Undiagnosed Diseases for Adults (no. 16ek0109151h0002) from the Japan Agency for Medical Research and Development (AMED) and by Japan Society for the Promotion of Science Grants-in-Aid for Scientific Research (C) (no. 26462659 awarded to Y.H. and no. 16K11284 awarded to K.H.).
Conflicts of interest
K. Kurata, None; K. Hosono, None; Y. Hotta, None.
- 6.Audo I, Bujakowska K, Mohand-Saïd S, Lancelot ME, Moskova-Doumanova V, Waseem NH, et al. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC Med Genet. 2010;11:145. https://doi.org/10.1186/1471-2350-11-145.CrossRefPubMedPubMedCentralGoogle Scholar
- 12.National Institutes of Health. ImageJ. http://rsbweb.nih.gov/ij/. Accessed 6 May 2017.
- 14.Daiger SD, Sullivan LS, Bowne SJ. The retinal information network. The University of Texas Health Science Center, USA. http://www.sph.uth.tmc.edu/Retnet/. Accessed 23 Jan 2014.
- 15.The 1000 Genomes Project data. In: The 1000 genomes project consortium. http://www.1000genomes.org/. Accessed 6 May 2017.
- 16.ExAC database. In: The Exome aggregation consortium. http://exac.broadinstitute.org/. Accessed 6 May 2017.
- 17.Higasa K, Miyake N, Yoshimura J. Human genetic variation database. Kyoto University, Japan. http://www.genome.med.kyoto-u.ac.jp/SnpDB/. Accessed 6 May 2017.
- 18.Integrative Japanese Genome Variation Database. Tohoku University, Japan. https://ijgvd.megabank.tohoku.ac.jp/. Accessed 6 May 2017.
- 19.The Human Gene Mutation Database. Institute of Medical Genetics in Cardiff. http://www.hgmd.cf.ac.uk/ac/index.php. Accessed 6 May 2017.
- 20.Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, et al. Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. PLoS One. 2012. https://doi.org/10.1371/journal.pone.0031036.e31036.Google Scholar
- 26.Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci. 2006;47:3052–64.CrossRefPubMedPubMedCentralGoogle Scholar