title: Understanding Cone Photoreceptor Cell Death in Achromatopsia.
abstract: Colour vision is only achieved in the presence of healthy and functional cone photoreceptors found in the retina. It is an essential component of human vision and usually the first complaint patients undergoing vision degeneration have is the loss of daylight colour vision. Therefore, an understanding of the biology and basic mechanisms behind cone death under the degenerative state of retinal dystrophies and how the activation of the apoptotic pathway is triggered will provide valuable knowledge. It will also have broader applications for a spectrum of visual disorders and will be critical for future advances in translational research.
authors.affiliation: Department of Ophthalmology, Ocular Genomics Institute, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Harvard University, 20 Staniford Street, 02114, Boston, MA, USA. livia_carvalho@meei.harvard.edu.
authors.forename: Livia S
authors.initials: LS
authors.lastname: Carvalho
authors.affiliation: Department of Ophthalmology, Ocular Genomics Institute, Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Harvard University, 20 Staniford Street, 02114, Boston, MA, USA.
authors.forename: Luk H
authors.initials: LH
authors.lastname: Vandenberghe
mesh_terms: D000818:Animals; D017209:Apoptosis / Q000235:genetics / Q000502:physiology*; D055253:Color Vision / Q000235:genetics / Q000502:physiology; D003117:Color Vision Defects / Q000235:genetics / Q000503:physiopathology*; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation; D017949:Retinal Cone Photoreceptor Cells / Q000378:metabolism / Q000502:physiology*; D012162:Retinal Degeneration / Q000235:genetics / Q000503:physiopathology*
keywords: Achromatopsia; Apoptosis; Cell death; Cone degeneration; Cone dystrophies; Cone photoreceptors