Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin
Carroll J, Baraas RC, Wagner-Schuman M, Rha J, Siebe CA, Sloan C, Tait DM, Thompson S, Morgan JI, Neitz J, Williams DR, Foster DH, Neitz M. Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin. Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 106: 20948-20953. PMID: 19934058, PMCID: PMC2791574, DOI: 10.1073/pnas.0910128106.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SubstitutionArginineCell CountChromosomes, Human, XColor VisionCone OpsinsCysteineDiagnostic Techniques, OphthalmologicalFemaleHumansMaleMosaicismMutationRetinaRetinal Cone Photoreceptor CellsYoung AdultConceptsEarly-onset retinitis pigmentosaOuter nuclear layerM-cone opsinCone opsin mutationsColor vision defectsVision lossCommon causeNuclear layerCone functionRetinitis pigmentosaCone densityVision defectsMosaic disruptionSubstitution of arginineFrequent mutationsColor vision deficiencyCone opsinsGreen color vision defectsSignificant reduction