Year: 2017
Type: preprint
Abstract: Photoreceptors are sensory neurons designed to convert light stimuli into neurological responses. This process, called phototransduction, takes place in the outer segments (OS) of rod and cone photoreceptors. OS are specialized sensory cilia, with analogous structures to those present in other nonmotile cilia. Deficient morphogenesis and/or dysfunction of photoreceptor sensory cilia (PSC) caused by mutations in a variety of photoreceptor-specific and common cilia genes can lead to inherited retinal degenerations (IRDs). IRDs can manifest as isolated retinal diseases or syndromic diseases. In this review, we describe the structure and composition of PSC and different forms of ciliopathies with retinal involvement. We review the genetics of the IRDs, which are monogenic disorders but genetically diverse with regard to causality.
Authors: Kinga M. Bujakowska, Qin Liu, Eric A. Pierce
Institutions: Massachusetts Eye and Ear Infirmary, Harvard University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Funder: National Eye Institute
OpenAlex ID: W2595964111