A novel missense mutation in the rds/peripherin gene associated with retinal pattern dystrophy
Related Experiment Video
Updated: Apr 21, 2026

Organotypic Retinal Explant Cultures from Macaque Monkey
Published on: August 24, 2022
Omar R Ahmad1, Radha Ayyagari, David N Zacks
1From the Department of Ophthalmology and Visual Sciences, The Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, Michigan.
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.
Related Concept Videos
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation
Translation Produces the Building Blocks of Life
Proteins are...
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...
Incomplete Dominance

