Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa
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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.
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