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- W2018434721 abstract "In Brief Purpose: To present a case of retinal pattern dystrophy and the genetic analysis identifying the molecular basis of the disease. Methods: A 46-year-old man with a 6-year history of vision loss of the right eye. A clinical exam revealed pattern dystrophy of the retina bilaterally, with more involvement of the right eye. Results: Molecular diagnostic analysis of the retinal degeneration slow (RDS)/peripherin gene showed a novel change at nucleotide position 665 (G665C) that alters the amino acid at position 222 from cysteine to serine (C222S). Conclusion: This study describes an RDS/peripherin mutation in a case of retinal pattern dystrophy, which is the first identification of this mutation to our knowledge. A 46-year-old male presented with 6 years of decreased visual acuity in the right eye. Clinical exam was consistent with pattern dystrophy bilaterally, greater in his right eye. Molecular genetic testing revealed a novel mutation in the RDS/peripherin gene G665C with resultant cysteine to serine amino acid change." @default.
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- W2018434721 date "2010-01-01" @default.
- W2018434721 modified "2023-10-16" @default.
- W2018434721 title "A NOVEL MISSENSE MUTATION IN THE RDS/PERIPHERIN GENE ASSOCIATED WITH RETINAL PATTERN DYSTROPHY" @default.
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- W2018434721 doi "https://doi.org/10.1097/icb.0b013e318198d8f7" @default.
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