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

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)290-293
Number of pages4
JournalInvestigative Ophthalmology and Visual Science
Volume41
Issue number1
Publication statusPublished - 2000 Jan 19

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Fingerprint Dive into the research topics of 'A new Leu253Arg mutation in the RP2 gene in a Japanese family with X- linked retinitis pigmentosa'. Together they form a unique fingerprint.

Cite this