Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.

Autor: Boye SE; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida, United States of America., Huang WC; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Roman AJ; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Sumaroka A; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Boye SL; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida, United States of America., Ryals RC; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida, United States of America., Olivares MB; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Ruan Q; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida, United States of America., Tucker BA; Stephen A. Wynn Institute for Vision Research, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States of America., Stone EM; Stephen A. Wynn Institute for Vision Research, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States of America; Howard Hughes Medical Institute, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States of America., Swaroop A; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America., Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Hauswirth WW; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida, United States of America., Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

Publikováno v: PloS one [PLoS One] 2014 Mar 26; Vol. 9 (3), pp. e92928. Date of Electronic Publication: 2014 Mar 26 (Print Publication: 2014).

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

Autor: Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. cideciya@mail.med.upenn.edu, Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB, Schwartz SB, Komáromy AM, Hauswirth WW, Aguirre GD

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2013 Feb 05; Vol. 110 (6), pp. E517-25. Date of Electronic Publication: 2013 Jan 22.

Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

Autor: Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, USA. jacobsos@mail.med.upenn.edu, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2011 Oct 07; Vol. 52 (11), pp. 7924-36. Date of Electronic Publication: 2011 Oct 07.