A new Leu253Arg mutation in the RP2 gene in a Japanese family with X- linked retinitis pigmentosa

Yuko Wada, Mitsuru Nakazawa, Toshiaki Abe, Makoto Tamai

研究成果: Article査読

16 被引用数 (Scopus)

抄録

PURPOSE. To identify the clinical findings in a Japanese family with X- linked retinitis pigmentosa associated with mutation in codon 253 (Leu253Arg) in the RP2 gene. METHODS. Case reports included clinical features and results of fluorescein angiography, electroretinogram, kinetic visual field testing, and DNA analysis. Two affected hemizygotes with retinitis pigmentosa associated with transversion mutations in codon 253 (Leu253Arg) of the RP2 gene and the obligate carriers were examined. RESULTS. A novel Leu253Arg mutation of the RP2 gene was found to cosegregate with retinal degeneration in two affected males and two carriers in female heterozygote in a Japanese family. The ophthalmic findings in hemizygote showed severe retinal degeneration. In the obligate carrier, mild chorioretinal degeneration was observed in both eyes but a tapetal-like reflex of the fundus was not apparent. CONCLUSIONS. The mutation at codon 253 of the RP2 gene is the first mutation reported in a Japanese family. It is concluded that the mutation of the RP2 gene also causes the X-linked retinitis pigmentosa in Japanese patients.

本文言語English
ページ(範囲)290-293
ページ数4
ジャーナルInvestigative Ophthalmology and Visual Science
41
1
出版ステータスPublished - 2000 1 19

ASJC Scopus subject areas

  • 眼科学
  • 感覚系
  • 細胞および分子神経科学

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