Rakesh Radhakrishnan, Venkateshwara R Dronamraju, Matthias Leung, Andrew Gruesen, Ashish K Solanki, Stephen Walterhouse, Heidi Roehrich, Grace Song, Rafael da Costa Monsanto, Sebahattin Cureoglu, René Martin, Altaf A Kondkar, Frederik J van Kuijk, Sandra R Montezuma, Hans-Joachim Knöelker, Robert B Hufnagel, Glenn P Lobo
BACKGROUND: Rods and cones are photoreceptor neurons in the retina that are required for visual sensation in vertebrates, wherein the perception of vision is initiated when these neurons respond to photons in the light stimuli. The photoreceptor cell is structurally studied as outer segments (OS) and inner segments (IS) where proper protein sorting, localization, and compartmentalization are critical for phototransduction, visual function, and survival. In human retinal diseases, improper protein transport to the OS or mislocalization of proteins to the IS and other cellular compartments could lead to impaired visual responses and photoreceptor cell degeneration that ultimately cause loss of visual function...
June 2022: Ophthalmic Genetics