The photoreceptor specific tetraspanin protein peripherin-2, also known as
retinal degeneration slow (RDS) plays a critical role in the biogenesis and maintenance
of both rod and cone photoreceptor outer segments. Over 80 pathological mutations in
RDS have been linked with multiple degenerative blinding diseases including retinitis
pigmentosa and various forms of macular degeneration. RDS-associated disease is
characterized by a diverse set of phenotypes with variability in penetrance, severity,
and timing of disease onset. Much insight into the complex pathological mechanisms
associated with RDS mutations has been gleaned from work in animal models with
disease-causing mutations. In the current review we summarize our current
understanding of RDS function in the normal retina and how defects in this function
contribute to the associated disease pathologies in human patients.
Keywords: Animal models, Blindness, Choriocapillaris atrophy, Cones, Disease
mechanisms, Electroretinography, Macular dystrophy, Microdomain, Morphogenesis,
Outer segments, Photoreceptors, Protein complexes, Protein trafficking,
RDS, Retinal degeneration, Retinitis pigmentosa, Rim region, Rods, ROM-1,
Tetraspanin.
