論文

査読有り
2015年8月

Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations

DOCUMENTA OPHTHALMOLOGICA
  • Kazuki Kuniyoshi
  • ,
  • Hiroyuki Sakuramoto
  • ,
  • Kazutoshi Yoshitake
  • ,
  • Kazuho Ikeo
  • ,
  • Masaaki Furuno
  • ,
  • Kazushige Tsunoda
  • ,
  • Shunji Kusaka
  • ,
  • Yoshikazu Shimomura
  • ,
  • Takeshi Iwata

131
1
開始ページ
71
終了ページ
79
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1007/s10633-015-9497-7
出版者・発行元
SPRINGER

Purpose To present the clinical and genetic findings in two siblings with autosomal recessive retinitis pigmentosa (RP) and their non-symptomatic parents.
Methods We studied two siblings, a 48-year-old woman and her 44-year-old brother, and their parents. They had general ophthalmic examinations including ophthalmoscopy, perimetry, and electroretinography (ERG). Their whole exomes were analyzed by the next-generation sequence technique.
Results The two siblings had night blindness for a long time, and clinical examinations revealed diffuse retinal degeneration with bone spicule pigmentation, constriction of the visual field, and non-recordable ERGs. Their parents were non-symptomatic and had normal fundi; however, their rod ERGs were reduced. Genetic examination revealed compound heterozygous mutations of I535N and H557Y in the PDE6B gene in the siblings, and the parents were heterozygous carriers of the mutations.
Conclusions Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees.The retinal function of non-symptomatic carriers of autosomal recessive RP should be evaluated with care.

Web of Science ® 被引用回数 : 3

リンク情報
DOI
https://doi.org/10.1007/s10633-015-9497-7
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000358190700008&DestApp=WOS_CPL

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