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


CONCLUSIONS
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.
From the Department of Ophthalmology and Visual Sciences, The Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, Michigan.
Omar R
OR
Ahmad
Radha
R
Ayyagari
David N
DN
Zacks