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. 2010 Winter;4(1):84-5.
doi: 10.1097/ICB.0b013e318198d8f7.

A novel missense mutation in the rds/peripherin gene associated with retinal pattern dystrophy

Omar R Ahmad  1 , Radha Ayyagari, David N Zacks
Affiliations

A novel missense mutation in the rds/peripherin gene associated with retinal pattern dystrophy

Omar R Ahmad et al. Retin Cases Brief Rep. 2010 Winter.

Abstract

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.

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