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1. Full Text Long-term effect of gene therapy on Leber's congenital amaurosis
by Bainbridge, J.W.B and Mehat, M.S and Sundaram, V and Robbie, S.J and Barker, S.E and Ripamonti, C and Georgiadis, A and Mowat, F.M and Beattie, S.G and Gardner, P.J and Feathers, K.L and Luong, V.A and Yzer, S and Balaggan, K and Viswanathan, A and De Ravel, T.J.L and Casteels, I and Holder, G.E and Tyler, N and Fitzke, F.W and Weleber, R.G and Nardini, M and Moore, A.T and Thompson, D.A and Petersen-Jones, S.M and Michaelides, M and Van Den Born, L.I and Stockman, A and Smith, A.J and Rubin, G and Ali, R.R
New England Journal of Medicine, ISSN 0028-4793, 05/2015, Volume 372, Issue 20, pp. 1887 - 1897
BACKGROUND Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease that severely impairs sight in children. Gene... 
EXPRESSING RPE65 | CELLS | MEDICINE, GENERAL & INTERNAL | SUBRETINAL INJECTION | MULLER | VISION | ADENOASSOCIATED VIRUS | RETINAL-DETACHMENT | RPE65 MUTATIONS | BLINDNESS | DEGENERATION | Genetic Therapy | Genetic Vectors - administration & dosage | DNA, Complementary - administration & dosage | Humans | Leber Congenital Amaurosis - genetics | Dependovirus | Disease Progression | Retina - physiology | Young Adult | Animals | cis-trans-Isomerases - genetics | Vision, Ocular | Adolescent | Dogs | Photoreceptor Cells, Vertebrate | Mutation | Child | Leber Congenital Amaurosis - therapy | Disease Models, Animal | Treatment outcome | Usage | Care and treatment | Safety and security measures | Analysis | Leber's congenital amaurosis | Gene therapy | Risk factors | Index Medicus | Abridged Index Medicus
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2. Full Text Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
by Maguire, Maureen G and Maguire, Albert M and Simonelli, Francesca and Pierce, Eric A and Pugh, Edward N and Mingozzi, Federico and Bennicelli, Jeannette and Banfi, Sandro and Marshall, Kathleen A and Testa, Francesco and Surace, Enrico M and Rossi, Settimio and Lyubarsky, Arkady and Arruda, Valder R and Konkle, Barbara and Stone, Edwin and Sun, Junwei and Jacobs, Jonathan and Dell'Osso, Lou and Hertle, Richard and Ma, Jian-xing and Redmond, T. Michael and Zhu, Xiaosong and Hauck, Bernd and Zelenaia, Olga and Shindler, Kenneth S and Wright, J. Fraser and Volpe, Nicholas J and McDonnell, Jennifer Wellman and Auricchio, Alberto and High, Katherine A and Bennett, Jean
The New England Journal of Medicine, ISSN 0028-4793, 05/2008, Volume 358, Issue 21, pp. 2240 - 2248
Leber's congenital amaurosis (LCA) is a group of inherited disorders involving retinal degeneration with severe vision loss noted in early infancy. The... 
LIGHT REFLEX | VISUAL CYCLE | ISOMEROHYDROLASE | MEDICINE, GENERAL & INTERNAL | CHILDHOOD BLINDNESS | CANINE MODEL | THERAPY | VISION | DYSTROPHY | RPE65 MUTATIONS | RETINITIS-PIGMENTOSA | Dependovirus - genetics | Gene Transfer Techniques | Genetic Therapy | Promoter Regions, Genetic | Retinal Degeneration - genetics | Humans | Blindness - pathology | Visual Acuity | Blindness - genetics | Carrier Proteins - genetics | Injections | Reflex, Pupillary | Retinal Degeneration - therapy | Adult | Blindness - congenital | Blindness - therapy | Eye Proteins - genetics | Mutation | Retinal Degeneration - congenital | Genetic Vectors | Retinal Degeneration - pathology | Retina - pathology | cis-trans-Isomerases | DNA, Complementary | Usage | Care and treatment | Adenoviruses | Leber's congenital amaurosis | Diagnosis | Gene therapy | Health aspects | Index Medicus | Abridged Index Medicus
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3. Full Text NMNAT1 mutations cause Leber congenital amaurosis
by Falk, Marni J and Zhang, Qi and Nakamaru-Ogiso, Eiko and Kannabiran, Chitra and Fonseca-Kelly, Zoe and Chakarova, Christina and Audo, Isabelle and MacKay, Donna S and Zeitz, Christina and Borman, Arundhati Dev and Staniszewska, Magdalena and Shukla, Rachna and Palavalli, Lakshmi and Mohand-Said, Saddek and Waseem, Naushin H and Jalali, Subhadra and Perin, Juan C and Place, Emily and Ostrovsky, Julian and Xiao, Rui and Bhattacharya, Shomi S and Consugar, Mark and Webster, Andrew R and Sahel, José-Alain and Moore, Anthony T and Berson, Eliot L and Liu, Qin and Gai, Xiaowu and Pierce, Eric A
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1040 - 1045
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1,2). Two-thirds of LCA cases... 
PROTEIN | NICOTINAMIDE | WALLERIAN DEGENERATION | DISEASE | GENETICS & HEREDITY | SUBCELLULAR COMPARTMENTATION | GENE-THERAPY | WLD(S) | IDENTIFICATION | RETINITIS-PIGMENTOSA | DYSTROPHIES | Genetic Predisposition to Disease | Retinal Degeneration - diagnosis | Retinal Degeneration - genetics | Humans | Child, Preschool | Male | Leber Congenital Amaurosis - genetics | Case-Control Studies | Leber Congenital Amaurosis - complications | Mutation - physiology | DNA Mutational Analysis | Pedigree | Base Sequence | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Family | Female | Nicotinamide-Nucleotide Adenylyltransferase - physiology | Child | Retinal Degeneration - complications | Causes of | Genetic aspects | Leber's congenital amaurosis | Gene mutations | Health aspects | Medical research | Hospitals | Mutation | Metabolic disorders | Children & youth | Index Medicus
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4. Full Text Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
by Artur V. Cideciyan and Samuel G. Jacobson and William A. Beltran and Alexander Sumaroka and Malgorzata Swider and Simone Iwabe and Alejandro J. Roman and Melani B. Olivares and Sharon B. Schwartz and András M. Komáromy and William W. Hauswirth and Gustavo D. Aguirre
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 02/2013, Volume 110, Issue 6, pp. E517 - E525
Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness... 
Retinal structure | Neurodegeneration | Outer nuclear layer | CANINE MODEL | NIGHT BLINDNESS | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | neurodegeneration | RECESSIVE RETINITIS-PIGMENTOSA | NULL MUTATION DOG | BRIARD DOGS | RPE65(-/-) MOUSE MODEL | outer nuclear layer | CHILDHOOD BLINDNESS | RESTORES VISION | retinal structure | PHOTORECEPTOR DEGENERATION | Leber Congenital Amaurosis - pathology | Genetic Therapy | Leber Congenital Amaurosis - physiopathology | Retinal Degeneration - genetics | Humans | Child, Preschool | Leber Congenital Amaurosis - genetics | Retinal Degeneration - prevention & control | Young Adult | Animals | cis-trans-Isomerases - genetics | Time Factors | Vision, Ocular | Adolescent | Dogs | Adult | Mutation | Retinal Degeneration - pathology | Child | Leber Congenital Amaurosis - therapy | Photoreceptor Cells, Vertebrate - pathology | Disease Models, Animal | Proteins | Retina | T cell receptors | Gene therapy | Index Medicus | Biological Sciences | PNAS Plus
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5. Full Text Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis
by Bainbridge, James W.B and Smith, Alexander J and Barker, Susie S and Robbie, Scott and Henderson, Robert and Balaggan, Kamaljit and Viswanathan, Ananth and Holder, Graham E and Stockman, Andrew and Tyler, Nick and Petersen-Jones, Simon and Bhattacharya, Shomi S and Thrasher, Adrian J and Fitzke, Fred W and Carter, Barrie J and Rubin, Gary S and Moore, Anthony T and Ali, Robin R
The New England Journal of Medicine, ISSN 0028-4793, 05/2008, Volume 358, Issue 21, pp. 2231 - 2239
A form of Leber's congenital amaurosis is caused by mutant RPE65 , a critical component of the visual cycle. Two early clinical trials to assess subretinal... 
ADENOASSOCIATED VIRAL VECTORS | ISOMEROHYDROLASE | MEDICINE, GENERAL & INTERNAL | PROTEIN | DYSTROPHY | DOGS | ISOMERASE | RPE65 MUTATIONS | IDENTIFICATION | RETINAL-PIGMENT EPITHELIUM | CYCLE | Dependovirus - genetics | Gene Transfer Techniques | Genetic Therapy | Retinal Degeneration - genetics | Humans | Retina - physiopathology | Blindness - pathology | Visual Acuity | Blindness - genetics | Carrier Proteins - genetics | Injections | Retinal Degeneration - therapy | Adolescent | Adult | Blindness - congenital | Blindness - therapy | Eye Proteins - genetics | Mutation | Retinal Degeneration - congenital | Genetic Vectors | Retinal Degeneration - pathology | Retina - pathology | cis-trans-Isomerases | DNA, Complementary | Usage | Care and treatment | Adenoviruses | Leber's congenital amaurosis | Diagnosis | Gene therapy | Drug therapy | Health aspects | Index Medicus | Abridged Index Medicus
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6. Full Text Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
by Simonelli, Francesca and Maguire, Albert M and Testa, Francesco and Pierce, Eric A and Mingozzi, Federico and Bennicelli, Jeannette L and Rossi, Settimio and Marshall, Kathleen and Banfi, Sandro and Surace, Enrico M and Sun, Junwei and Redmond, T Michael and Zhu, Xiaosong and Shindler, Kenneth S and Ying, Gui-Shuang and Ziviello, Carmela and Acerra, Carmela and Wright, J Fraser and McDonnell, Jennifer Wellman and High, Katherine A and Bennett, Jean and Auricchio, Alberto
Molecular Therapy, ISSN 1525-0016, 03/2010, Volume 18, Issue 3, pp. 643 - 650
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital amaurosis (LCA), an autosomal... 
MEDICINE, RESEARCH & EXPERIMENTAL | MOLECULAR-GENETICS | CANINE MODEL | VISION | RPE65 MUTATIONS | NYSTAGMUS | HEMOPHILIA | VARIABILITY | CHILDHOOD BLINDNESS | PHASE-I TRIAL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENETICS & HEREDITY | Dependovirus - genetics | Retina - metabolism | Follow-Up Studies | Humans | Treatment Outcome | Leber Congenital Amaurosis - genetics | Disease Progression | Carrier Proteins - genetics | Time Factors | Vision, Ocular | Adult | Models, Genetic | Eye Proteins - genetics | Genetic Vectors | Transgenes | Leber Congenital Amaurosis - therapy | cis-trans-Isomerases | Genetic Therapy - methods | Index Medicus | Original
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7. Full Text CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype
by Burnight, E.R and Wiley, L.A and Drack, A.V and Braun, T.A and Anfinson, K.R and Kaalberg, E.E and Halder, J.A and Affatigato, L.M and Mullins, R.F and Stone, E.M and Tucker, B.A
Gene Therapy, ISSN 0969-7128, 2014, Volume 21, Issue 7, pp. 662 - 672
Mutations in CEP290 are the most common cause of Leber congenital amaurosis (LCA), a severe inherited retinal degenerative disease for which there is currently... 
MUTATIONS RESULT | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | CILIA | BLINDNESS | DEGENERATION | THERAPY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | DISEASE | GENETICS & HEREDITY | MICE | GENERATION | PHOTORECEPTORS | Leber Congenital Amaurosis - pathology | Retina - metabolism | Humans | Neoplasm Proteins - metabolism | Antigens, Neoplasm - metabolism | Lentivirus - genetics | Neoplasm Proteins - genetics | Leber Congenital Amaurosis - therapy | Disease Models, Animal | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Induced Pluripotent Stem Cells - pathology | Antigens, Neoplasm - genetics | Cilia - pathology | Transduction, Genetic | Induced Pluripotent Stem Cells - transplantation | Cells, Cultured | Leber Congenital Amaurosis - genetics | Fibroblasts - pathology | Cilia - metabolism | Animals | Genetic Vectors - pharmacology | Photoreceptor Cells - metabolism | Mice | Retina - pathology | Care and treatment | Usage | Genetic transformation | Genetic vectors | Leber's congenital amaurosis | Lentivirus | Health aspects | Methods | Polymerase chain reaction | Genotype & phenotype | Transcription factors | Mutation | Gene therapy | Index Medicus | Gene transfer | Patient specific stem cells | LCA
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8. Full Text CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10
by Ruan, Guo-Xiang and Barry, Elizabeth and Yu, Dan and Lukason, Michael and Cheng, Seng H and Scaria, Abraham
Molecular Therapy, ISSN 1525-0016, 02/2017, Volume 25, Issue 2, pp. 331 - 341
As the most common subtype of Leber congenital amaurosis (LCA), LCA10 is a severe retinal dystrophy caused by mutations in the gene. The most frequent mutation... 
CRISPR/Cas9 | CEP290 | LCA10 | RETINAL DEGENERATION | SYSTEM | MEDICINE, RESEARCH & EXPERIMENTAL | HUMAN-CELLS | MOUSE | MODEL | DELIVERY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | IN-VIVO | MUTATION | GENETICS & HEREDITY | GENE-TRANSFER | Antigens, Neoplasm - genetics | Gene Targeting | Sequence Deletion | Gene Expression | Retina - metabolism | Alternative Splicing | Introns | RNA, Messenger - genetics | Leber Congenital Amaurosis - genetics | Genetic Loci | Gene Editing | Animals | CRISPR-Cas Systems | Female | Mice | RNA, Guide | Targeted Gene Repair | Mutation | Neoplasm Proteins - genetics | Gene Order | Leber Congenital Amaurosis - therapy | CRISPR | Immune response | Cloning | Retina | Genomes | Gene expression | Gene deletion | Ribonucleic acid--RNA | Patients | Proteins | Clonal deletion | Plasmids | Blindness | Retinal degeneration | Photoreceptors | Dystrophy | Laboratory animals | Deoxyribonucleic acid--DNA | Index Medicus | Cas9 | Original
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9. Full Text Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
by Maguire, Albert M, MD and High, Katherine A, Prof and Auricchio, Alberto, Prof and Wright, J Fraser, PhD and Pierce, Eric A, MD and Testa, Francesco, MD and Mingozzi, Federico, PhD and Bennicelli, Jeannette L, PhD and Ying, Gui-shuang, PhD and Rossi, Settimio, MD and Fulton, Ann, Prof and Marshall, Kathleen A, COT and Banfi, Sandro, MD and Chung, Daniel C, DO and Morgan, Jessica IW, PhD and Hauck, Bernd, PhD and Zelenaia, Olga, PhD and Zhu, Xiaosong, MD and Raffini, Leslie, MD and Coppieters, Frauke, PhD and De Baere, Elfride, PhD and Shindler, Kenneth S, MD and Volpe, Nicholas J, Prof and Surace, Enrico M, DVM and Acerra, Carmela, BA and Lyubarsky, Arkady, PhD and Redmond, T Michael, PhD and Stone, Edwin, Prof and Sun, Junwei, MBA and McDonnell, Jennifer Wellman, MS and Leroy, Bart P, Prof and Simonelli, Francesca, MD and Bennett, Jean, Prof
Lancet, The, ISSN 0140-6736, 2009, Volume 374, Issue 9701, pp. 1597 - 1605
Summary Background Gene therapy has the potential to reverse disease or prevent further deterioration of vision in patients with incurable inherited retinal... 
Internal Medicine | VISUAL CYCLE | ISOMEROHYDROLASE | MEDICINE, GENERAL & INTERNAL | VISION | SAFETY | ROD | KINETICS | ISOMERASE | MUTATIONS | RETINITIS-PIGMENTOSA | BLINDNESS | Dependovirus - genetics | Nystagmus, Physiologic | Age Factors | Humans | Male | Optic Atrophy, Hereditary, Leber - genetics | Genetic Vectors - therapeutic use | Dark Adaptation | Dose-Response Relationship, Drug | Young Adult | Adult | Female | Blindness - congenital | Eye Proteins - genetics | Optic Atrophy, Hereditary, Leber - diagnosis | Safety | Child | cis-trans-Isomerases | Electroretinography | Treatment Outcome | Optic Atrophy, Hereditary, Leber - therapy | Mutation - genetics | Visual Acuity | Blindness - genetics | Disease Progression | Genetic Vectors - genetics | Carrier Proteins - genetics | Injections | Adolescent | Genetic Therapy - methods | Usage | Care and treatment | Genetic aspects | Leber's congenital amaurosis | Gene therapy | Health aspects | Studies | Eye movements | Patients | Eyes & eyesight | Light | Blindness | Index Medicus | Abridged Index Medicus
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10. Full Text IQCB1 mutations in patients with leber congenital amaurosis
by Estrada-Cuzcano, A and Koenekoop, R.K and Coppieters, F and Kohl, S and Lopez, I and Collin, R.W.J and Baere, E.B. De and Roeleveld, D and Marek, J and Bernd, A and Rohrschneider, K and Born, L.I. van den and Meire, F and Maumenee, I.H and Jacobson, S.G and Hoyng, C.B and Zrenner, E and Cremers, F.P.M and Hollander, A.I. den
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2011, Volume 52, Issue 2, pp. 834 - 839
PURPOSE: Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for approximately 70% of LCA patients.... 
JOUBERT-SYNDROME | RETINAL DEGENERATION | SENIOR-LOKEN-SYNDROME | DISEASE | NEPHRONOPHTHISIS | OPHTHALMOLOGY | IDENTIFICATION | RETINITIS-PIGMENTOSA | NPHP6 GENE | CEP290 | CENTROSOMAL PROTEIN | Calmodulin-Binding Proteins - genetics | Optic Atrophies, Hereditary - genetics | Frameshift Mutation | Humans | Middle Aged | Child, Preschool | Ciliopathies | Genotype | Male | Leber Congenital Amaurosis - genetics | Codon, Nonsense | DNA Mutational Analysis | Adolescent | Polymerase Chain Reaction | Kidney Diseases, Cystic - genetics | Adult | Female | Leber Congenital Amaurosis - diagnosis | Polymorphism, Single Nucleotide | Child | Chromosomes, Human, Pair 3 - genetics | Index Medicus
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11. Full Text Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2
by Testa, Francesco, MD, PhD and Maguire, Albert M., MD and Rossi, Settimio, MD and Pierce, Eric A., MD, PhD and Melillo, Paolo, PhD and Marshall, Kathleen, COT and Banfi, Sandro, MD and Surace, Enrico M., DVM and Sun, Junwei, MS and Acerra, Carmela, BA and Wright, J. Fraser, PhD and Wellman, Jennifer, MS and High, Katherine A., MD and Auricchio, Alberto, MD and Bennett, Jean, MD, PhD and Simonelli, Francesca, MD
Ophthalmology, ISSN 0161-6420, 2013, Volume 120, Issue 6, pp. 1283 - 1291
Objective The aim of this study was to show the clinical data of long-term (3-year) follow-up of 5 patients affected by Leber congenital amaurosis type 2... 
Ophthalmology | VISUAL-ACUITY | ELECTRORETINOGRAPHY | SAFETY | FUNDUS AUTOFLUORESCENCE | DISEASE | OPHTHALMOLOGY | RPE65 MUTATIONS | GENE-THERAPY | STANDARD | Dependovirus - genetics | Genetic Therapy | Visual Fields - physiology | Follow-Up Studies | Leber Congenital Amaurosis - physiopathology | Tomography, Optical Coherence | Humans | Male | Leber Congenital Amaurosis - genetics | Reflex, Pupillary - physiology | Young Adult | Transfection | cis-trans-Isomerases - genetics | Adolescent | Adult | Female | Mutation | Genetic Vectors | Child | Leber Congenital Amaurosis - therapy | Visual Acuity - physiology | Injections, Intraocular | Medical colleges | Care and treatment | Genetic disorders | Blindness | Medical genetics | Index Medicus
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