April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Clinical Features of A Japanese Patient with Bothnia Dystrophy
Author Affiliations & Notes
  • Kazutoshi Nojima
    Ophthalmology,
    Hamamatsu University School of Medicine, Hamamatsu, Japan
  • Katsuhiro Hosono
    Ophthalmology,
    Hamamatsu University School of Medicine, Hamamatsu, Japan
  • Yang Zhao
    Ophthalmology,
    Photon Medical Research Center,
    Hamamatsu University School of Medicine, Hamamatsu, Japan
  • Takaaki Toshiba
    Ophthalmology,
    Hamamatsu University School of Medicine, Hamamatsu, Japan
  • Tatsuhiko Asai
    Ophthalmology,
    Hamamatsu University School of Medicine, Hamamatsu, Japan
  • Masaru Kato
    Ophthalmology, Seirei Mikatahara General Hospital, Hamamatsu, Japan
  • Shinsei Minoshima
    Photon Medical Research Center,
    Hamamatsu University School of Medicine, Hamamatsu, Japan
  • Yoshihiro Hotta
    Ophthalmology,
    Hamamatsu University School of Medicine, Hamamatsu, Japan
  • Footnotes
    Commercial Relationships  Kazutoshi Nojima, None; Katsuhiro Hosono, None; Yang Zhao, None; Takaaki Toshiba, None; Tatsuhiko Asai, None; Masaru Kato, None; Shinsei Minoshima, None; Yoshihiro Hotta, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5374. doi:https://doi.org/
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      Kazutoshi Nojima, Katsuhiro Hosono, Yang Zhao, Takaaki Toshiba, Tatsuhiko Asai, Masaru Kato, Shinsei Minoshima, Yoshihiro Hotta; Clinical Features of A Japanese Patient with Bothnia Dystrophy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5374. doi: https://doi.org/.

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

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Abstract

Purpose: : Bothnia dystrophy (BD) is a variant of recessive retinitis punctata albescens (RPA), caused by the homozygous R234W mutation in the RLBP1 gene. We report clinical features of a Japanese case with the homozygous R234W mutation in the RLBP1 gene.

Methods: : An affected female with RPA has been examined clinically for 25 years, and her DNA was obtained with informed consents. Exons and surrounding areas of RDH5, rhodopsin and RLBP1 genes were amplified by PCR, and direct sequencing was performed to find mutations.

Results: : 6-year-old Japanese girl was first examined in our hospital in 1986 because of night blindness at the age of 2 years. Numerous tiny white dots were observed in both eyes. Her both best-corrected visual acuities (BCVA) were (1.0). Single flash ERG showed severe reduction in both a and b wave which were markedly recovered by the extremely prolonged dark adaptation (24 hours). Visual and visual field loss started her twenties and BCVAs in 2010 (30-year-old) were (0.4) OD and (0.7) OS. Fundus examination showed the macular degeneration in both eyes. Although no mutation was detected in RDH5 and rhodopsin genes, the homozygous R234W mutation was detected in the RLBP1 gene.

Conclusions: : Clinical feature of a Japanese patient with the homozygous R234W mutation in the RLBP1 gene is very similar to that of the Swedish patients. Another Japanese case with RPA reported previously carried compound heterozygote of R103W and R234W of the RLBP1 gene. This may be caused by not the founder effect but high frequency of C to T transition.

Keywords: electroretinography: clinical • genetics • retina 
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