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Items: 1 to 20 of 29

1.
Estimation of impact of RPE65-mediated inherited retinal disease on quality of life and the potential benefits of gene therapy
Andrew Lloyd, Natalia Piglowska, Thomas Ciulla, Sarah Pitluck, Scott Johnson, Marric Buessing, Thomas O’Connell
Br J Ophthalmol. 2019 Nov; 103(11): 1610–1614. Published online 2019 Jan 18. doi: 10.1136/bjophthalmol-2018-313089
PMCID:
PMC6855782
AbstractArticlePDF–302K
2.
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene
DANIEL C. CHUNG, METTE BERTELSEN, BIRGIT LORENZ, MARK E. PENNESI, BART P. LEROY, CHRISTIAN P. HAMEL, ERIC PIERCE, JULIANA SALLUM, MICHAEL LARSEN, KNUT STIEGER, MARKUS PREISING, RICHARD WELEBER, PAUL YANG, EMILY PLACE, EMILY LIU, GRACE SCHAEFER, JULIE DISTEFANO-PAPPAS, OKAN U. ELCI, SARAH MCCAGUE, JENNIFER A. WELLMAN, KATHERINE A. HIGH, KATHLEEN Z. REAPE
Am J Ophthalmol. Author manuscript; available in PMC 2020 Mar 1.
Published in final edited form as: Am J Ophthalmol. 2019 Mar; 199: 58–70. Published online 2018 Sep 28. doi: 10.1016/j.ajo.2018.09.024
PMCID:
PMC6445969
AbstractArticlePDF–1.4M
3.
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa
Ruben Jauregui, Karen Sophia Park, Stephen H. Tsang
Ophthalmic Genet. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Ophthalmic Genet. 2018 Aug; 39(4): 544–549. doi: 10.1080/13816810.2018.1484929
PMCID:
PMC6314189
AbstractArticlePDF–1.8M
4.
Novel mobility test to assess functional vision in patients with inherited retinal dystrophies
Daniel C Chung, Sarah McCague, Zi-Fan Yu, Satha Thill, Julie DiStefano-Pappas, Jean Bennett, Dominique Cross, Kathleen Marshall, Jennifer Wellman, Katherine A High
Clin Exp Ophthalmol. Author manuscript; available in PMC 2019 Apr 1.
Published in final edited form as: Clin Exp Ophthalmol. 2018 Apr; 46(3): 247–259. Published online 2017 Aug 31. doi: 10.1111/ceo.13022
PMCID:
PMC5764825
AbstractArticlePDF–691K
5.
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis
Guylène Le Meur, Pierre Lebranchu, Fanny Billaud, Oumeya Adjali, Sébastien Schmitt, Stéphane Bézieau, Yann Péréon, Romain Valabregue, Catherine Ivan, Christophe Darmon, Philippe Moullier, Fabienne Rolling, Michel Weber
Mol Ther. 2018 Jan 3; 26(1): 256–268. Published online 2017 Sep 19. doi: 10.1016/j.ymthe.2017.09.014
PMCID:
PMC5763029
AbstractArticlePDF–1.8M
6.
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Prof Stephen Russell, Prof Jean Bennett, Jennifer A Wellman, Daniel C Chung, Zi-Fan Yu, Amy Tillman, Janet Wittes, Julie Pappas, Okan Elci, Sarah McCague, Dominique Cross, Kathleen A Marshall, Jean Walshire, Taylor L Kehoe, Hannah Reichert, Maria Davis, Leslie Raffini, Lindsey A George, F Parker Hudson, Laura Dingfield, Xiaosong Zhu, Julia A Haller, Elliott H Sohn, Vinit B Mahajan, Wanda Pfeifer, Michelle Weckmann, Prof Chris Johnson, Dina Gewaily, Arlene Drack, Prof Edwin Stone, Katie Wachtel, Prof Francesco Simonelli, Prof Bart P Leroy, J Fraser Wright, Katherine A High, Prof Albert M Maguire
Lancet. Author manuscript; available in PMC 2018 Aug 26.
Published in final edited form as: Lancet. 2017 Aug 26; 390(10097): 849–860. Published online 2017 Jul 14. doi: 10.1016/S0140-6736(17)31868-8
PMCID:
PMC5726391
AbstractArticlePDF–666K
7.
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65
A Georgiadis, Y Duran, J Ribeiro, L Abelleira-Hervas, S J Robbie, B Sünkel-Laing, S Fourali, A Gonzalez-Cordero, E Cristante, M Michaelides, J W B Bainbridge, A J Smith, R R Ali
Gene Ther. 2016 Dec; 23(12): 857–862. Published online 2016 Sep 22. doi: 10.1038/gt.2016.66
Correction in:
Gene Ther. 2018; 25(6): 450.
PMCID:
PMC5143366
AbstractArticlePDF–1.8M
8.
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
Galuh D N Astuti, Mette Bertelsen, Markus N Preising, Muhammad Ajmal, Birgit Lorenz, Sultana M H Faradz, Raheel Qamar, Rob W J Collin, Thomas Rosenberg, Frans P M Cremers
Eur J Hum Genet. 2016 Jul; 24(7): 1071–1079. Published online 2015 Dec 2. doi: 10.1038/ejhg.2015.241
PMCID:
PMC5070892
AbstractArticlePDF–1.4M
9.
The clinical features of retinal disease due to a dominant mutation in RPE65
Sarah Hull, Rajarshi Mukherjee, Graham E. Holder, Anthony T. Moore, Andrew R. Webster
Mol Vis. 2016; 22: 626–635. Published online 2016 Jun 10.
PMCID:
PMC4901053
AbstractArticlePDF–3.6M
10.
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
Hendrik P. N. Scholl, Anthony T. Moore, Robert K. Koenekoop, Yuquan Wen, Gerald A. Fishman, L. Ingeborgh van den Born, Ava Bittner, Kristen Bowles, Emily C. Fletcher, Frederick T. Collison, Gislin Dagnelie, Simona Degli Eposti, Michel Michaelides, David A. Saperstein, Ronald A. Schuchard, Claire Barnes, Wadih Zein, Ditta Zobor, David G. Birch, Janine D. Mendola, Eberhart Zrenner, RET IRD 01 Study Group
PLoS One. 2015; 10(12): e0143846. Published online 2015 Dec 10. doi: 10.1371/journal.pone.0143846
PMCID:
PMC4687523
AbstractArticlePDF–4.2M
11.
Optical Coherence Tomography
David Huang, Eric A. Swanson, Charles P. Lin, Joel S. Schuman, William G. Stinson, Warren Chang, Michael R. Hee, Thomas Flotte, Kenton Gregory, Carmen A. Puliafito, James G. Fujimoto
Science. Author manuscript; available in PMC 2015 Nov 9.
Published in final edited form as: Science. 1991 Nov 22; 254(5035): 1178–1181. doi: 10.1126/science.1957169
PMCID:
PMC4638169
AbstractArticlePDF–1.2M
12.
Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis
J.W.B. Bainbridge, M.S. Mehat, V. Sundaram, S.J. Robbie, S.E. Barker, C. Ripamonti, A. Georgiadis, F.M. Mowat, S.G. Beattie, P.J. Gardner, K.L. Feathers, V.A. Luong, S. Yzer, K. Balaggan, A. Viswanathan, T.J.L. de Ravel, I. Casteels, G.E. Holder, N. Tyler, F.W. Fitzke, R.G. Weleber, M. Nardini, A.T. Moore, D.A. Thompson, S.M. Petersen-Jones, M. Michaelides, L.I. van den Born, A. Stockman, A.J. Smith, G. Rubin, R.R. Ali
N Engl J Med. Author manuscript; available in PMC 2015 Nov 14.
Published in final edited form as: N Engl J Med. 2015 May 14; 372(20): 1887–1897. Published online 2015 May 4. doi: 10.1056/NEJMoa1414221
PMCID:
PMC4497809
AbstractArticlePDF–1005K
13.
Improvement in vision: a new goal for treatment of hereditary retinal degenerations
Samuel G Jacobson, Artur V Cideciyan, Gustavo D Aguirre, Alejandro J Roman, Alexander Sumaroka, William W Hauswirth, Krzysztof Palczewski
Expert Opin Orphan Drugs. 2015 May 4; 3(5): 563–575. Published online 2015 Mar 27. doi: 10.1517/21678707.2015.1030393
PMCID:
PMC4487613
AbstractArticlePDF–752K
14.
Improvement and Decline in Vision with Gene Therapy in Childhood Blindness
Samuel G. Jacobson, Artur V. Cideciyan, Alejandro J. Roman, Alexander Sumaroka, Sharon B. Schwartz, Elise Heon, William W. Hauswirth
N Engl J Med. Author manuscript; available in PMC 2015 Nov 14.
Published in final edited form as: N Engl J Med. 2015 May 14; 372(20): 1920–1926. Published online 2015 May 3. doi: 10.1056/NEJMoa1412965
PMCID:
PMC4450362
AbstractArticlePDF–922K
15.
Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients
Anshuman Verma, Vijayalakshmi Perumalsamy, Shashikant Shetty, Maigi Kulm, Periasamy Sundaresan
PLoS One. 2013; 8(9): e73172. Published online 2013 Sep 16. doi: 10.1371/journal.pone.0073172
PMCID:
PMC3774716
AbstractArticlePDF–192K
16.
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
Firoz Kabir, Shagufta Naz, S. Amer Riazuddin, Muhammad Asif Naeem, Shaheen N. Khan, Tayyab Husnain, Javed Akram, Paul A. Sieving, J. Fielding Hejtmancik, Sheikh Riazuddin
Mol Vis. 2013; 19: 1554–1564. Published online 2013 Jul 19.
PMCID:
PMC3716412
AbstractArticlePDF–2.7M
17.
Three Year Follow-Up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2
Francesco Testa, Albert M Maguire, Settimio Rossi, Eric A Pierce, Paolo Melillo, Kathleen Marshall, Sandro Banfi, Enrico M. Surace, Junwei Sun, Carmela Acerra, J. Fraser Wright, Jennifer Wellman, Katherine A High, Alberto Auricchio, Jean Bennett, Francesca Simonelli
Ophthalmology. Author manuscript; available in PMC 2014 Jun 1.
Published in final edited form as: Ophthalmology. 2013 Jun; 120(6): 1283–1291. Published online 2013 Mar 6. doi: 10.1016/j.ophtha.2012.11.048
PMCID:
PMC3674112
AbstractArticlePDF–2.4M
18.
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
Artur V. Cideciyan, Samuel G. Jacobson, William A. Beltran, Alexander Sumaroka, Malgorzata Swider, Simone Iwabe, Alejandro J. Roman, Melani B. Olivares, Sharon B. Schwartz, András M. Komáromy, William W. Hauswirth, Gustavo D. Aguirre
Proc Natl Acad Sci U S A. 2013 Feb 5; 110(6): E517–E525. Published online 2013 Jan 22. doi: 10.1073/pnas.1218933110
PMCID:
PMC3568385
AbstractArticlePDF–1.9M
19.
Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial
William W. Hauswirth, Tomas S. Aleman, Shalesh Kaushal, Artur V. Cideciyan, Sharon B. Schwartz, Lili Wang, Thomas J. Conlon, Sanford L. Boye, Terence R. Flotte, Barry J. Byrne, Samuel G. Jacobson
Hum Gene Ther. 2008 Oct; 19(10): 979–990. Published online 2008 Oct 7. doi: 10.1089/hum.2008.107
PMCID:
PMC2940541
AbstractArticlePDF–493K
20.
Leber Congenital Amaurosis due to RPE65 Mutations and its Treatment with Gene Therapy
Artur V. Cideciyan
Prog Retin Eye Res. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: Prog Retin Eye Res. 2010 Sep; 29(5): 398–427. Published online 2010 Apr 24. doi: 10.1016/j.preteyeres.2010.04.002
PMCID:
PMC2903652
AbstractArticlePDF–5.1M

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