Chapter 6

The Molecular Links between Mutations in RDS and Diseases of the Retina

Michael W. Stuck, Shannon M. Conley and Muna I. Naash

Abstract

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.

Total Pages: 86-100 (15)

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