Blue-cone monochromacy and achromatopsia

SUMMARY

Blue-cone monochromacy and achromatopsia

 


9 PUBLICATIONS ON BLUE-CONE MONOCHROMACY AND ACHROMATOPSIA

216. Garafalo AV, Sheplock R, Sumaroka A, Roman AJ, CIDECIYAN AV, Jacobson SG. Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology. EBioMedicine, 63:103200, 2021. [PubMed] [DOI]

214. Semenov EP, Sheplock R, Roman AJ, McGuigan DB, Swider M, CIDECIYAN AV, Jacobson SG. Reading performance in blue cone monochromacy: Defining an outcome measure for a clinical trial. Translational Vision Science & Techology, 9:13, 2020. [PubMed] [DOI]

212. Sumaroka A, CIDECIYAN AV, Sheplock R, Wu V, Kohl S, Wissinger B, Jacobson SG. Foveal therapy in blue cone monochromacy: Predictions of visual potential from artificial intelligence. Frontiers in Neuroscience, 14:800, 2020. [PubMed] [DOI] [Retinal Degeneration and Therapy Approaches]

196. Sumaroka A, Garafalo AV, CIDECIYAN AV, Charng J, Roman AJ, Choi W, Saxena S, Aksianiuk V, Kohl S, Wissinger B, Jacobson SG. Blue cone monochromacy caused by the C203R missense mutation or large deletion mutations. Investigative Ophthalmology & Visual Science 59:5762-5772, 2018. [PubMed]

161. CIDECIYAN AV, Roman AJ, Jacobson SG, Yan B, Pascolini M, Charng J, Pajaro S, Nirenberg S. Developing an outcome measure with high luminance for optogenetics treatment of severe retinal degenerations and for gene therapy of cone diseases. Investigative Ophthalmology & Visual Science 57:3211-3221, 2016. [PubMed]

151. Roman AJ, CIDECIYAN AV, Matsui R, Sheplock R, Schwartz SB, Jacobson SG. Outcome measure for the treatment of cone photoreceptor diseases: Orientation to a scene with cone-only contrast. BMC Ophthalmology 15:98, 2015. [PubMed] [PDF]

147. Luo X, CIDECIYAN AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG. Blue cone monochromacy: Visual function and efficacy outcome measures for clinical trials. PLoS One 10(4): e0125700, 2015. [PubMed] [PDF]

144. Zelinger L, CIDECIYAN AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG,Banin E, Sharon D. Genetics and disease expression in the CNGA3 form of achromatopsia: Steps on the path to gene therapy. Ophthalmology 122:997-1007, 2015.[PubMed]

135. CIDECIYAN AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Human Gene Therapy 24:993–1006, 2013. [PubMed]


Last updated December 23, 2020