Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.

@article{Nakamura2005NovelMI,
  title={Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.},
  author={Makoto Nakamura and Jian Ning Lin and Yasuki Ito and Yozo Miyake},
  journal={American journal of ophthalmology},
  year={2005},
  volume={139 6},
  pages={1133-5}
}
PURPOSE To report a novel mutation in the RLBP1 gene and optical coherence tomographic findings in a Japanese patient with retinitis punctata albescens. DESIGN Observational case report. METHODS The RLBP1 gene was analyzed by direct genomic sequencing. A complete ophthalmologic examination was performed. RESULTS Compound heterozygous mutations in the RLBP1 gene were identified in the patient. The mutations were a novel missense Arg103Trp mutation and a missense Arg234Trp mutation, the… CONTINUE READING
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