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Yuko Wada, Mitsuru Nakazawa, Toshiaki Abe, Makoto Tamai; A New Leu253Arg Mutation in the RP2 Gene in a Japanese Family with X-Linked Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2000;41(1):290-293. doi: https://doi.org/.
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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
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