Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.

@article{Nakazawa1995MacularDA,
  title={Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.},
  author={Masayuki Nakazawa and Yuko Wada and Makoto Tamai},
  journal={Retina},
  year={1995},
  volume={15 6},
  pages={518-23}
}
OBJECTIVE Mutations of the peripherin/RDS gene have been reported in several kinds of retinal dystrophy, and they show variation of manifestation. In some pedigrees, the same mutation can produce different phenotypic features, a factor that makes it difficult to deduce certain rules for genotype-phenotype correlations in the peripherin/RDS gene. The authors report the phenotypic features of a Japanese family with a mutation in codon 172 of the peripherin/RDS gene and compare them to previously… CONTINUE READING

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