Gene therapy and the adeno-associated virus in the treatment of genetic and acquired ophthalmic diseases in humans: Trials, future directions and safety considerations

Triple Vectors Expand AAV Transfer Capacity in the Retina

(2018) Andrea Maddalena et al.   MOLECULAR THERAPY

Safety of rAAV2/2- ND4 Gene Therapy for Leber Hereditary Optic Neuropathy

(2018) Catherine Vignal et al.   OPHTHALMOLOGY

Personalised genome editing – The future for corneal dystrophies

(2018) C.B. Tara Moore et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Gene therapy for visual loss: Opportunities and concerns

(2018) Jia Hui Lee et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Gene therapy for inherited retinal and optic nerve degenerations

(2017) Nicholas A. Moore et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Intravitreous injection of AAV2-sFLT01 in patients with advanced neovascular age-related macular degeneration: a phase 1, open-label trial

(2017) Jeffrey S Heier et al.   LANCET

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

(2017) Stephen Russell et al.   LANCET

Natural History of the Central Structural Abnormalities in Choroideremia

(2017) Tomas S. Aleman et al.   OPHTHALMOLOGY

Gene therapy for diabetic retinopathy: Are we ready to make the leap from bench to bedside?

(2017) Jiang-Hui Wang et al.   PHARMACOLOGY & THERAPEUTICS

CRISPR-Cas9–based treatment of myocilin-associated glaucoma

(2017) Ankur Jain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuroglobin Can Prevent or Reverse Glaucomatous Progression in DBA/2J Mice

(2017) Hélène Cwerman-Thibault et al.   Molecular Therapy-Methods & Clinical Development

Adeno-Associated Virus Overexpression of Angiotensin-Converting Enzyme-2 Reverses Diabetic Retinopathy in Type 1 Diabetes in Mice

(2016) James M. Dominguez et al.   AMERICAN JOURNAL OF PATHOLOGY

Therapeutic targeting of diabetic retinal neuropathy as a strategy in preventing diabetic retinopathy

(2016) Gabriela de Moraes et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Advances in Gene Therapy for Diseases of the Eye

(2016) Lolita Petit et al.   HUMAN GENE THERAPY

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

(2016) Nicola G. Ghazi et al.   HUMAN GENETICS

Visual Acuity after Retinal Gene Therapy for Choroideremia

(2016) Thomas L. Edwards et al.   NEW ENGLAND JOURNAL OF MEDICINE

Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood–Onset Retinal Dystrophy

(2016) Richard G. Weleber et al.   OPHTHALMOLOGY

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

(2016) Rocio Sanchez-Alcudia et al.   PLoS One

Self-Complementary Adeno-Associated Virus Vectors Improve Transduction Efficiency of Corneal Endothelial Cells

(2016) Anja K. Gruenert et al.   PLoS One

AAV Gene Therapy for MPS1-associated Corneal Blindness

(2016) Melisa Vance et al.   Scientific Reports

Leber Hereditary Optic Neuropathy: Bringing the Lab to the Clinic

(2016) Nailyn Rasool et al.   Seminars in Ophthalmology

Phase 2a Randomized Clinical Trial: Safety and Post Hoc Analysis of Subretinal rAAV.sFLT-1 for Wet Age-related Macular Degeneration

(2016) Ian J. Constable et al.   EBioMedicine

Long-term outcomes of gene therapy for the treatment of Leber's hereditary optic neuropathy

(2016) Shuo Yang et al.   EBioMedicine

CRISPR genome engineering and viral gene delivery: A case of mutual attraction

(2015) Florian Schmidt et al.   Biotechnology Journal

The cone dysfunction syndromes: Table 1

(2015) Jonathan Aboshiha et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa

(2015) B S Pawlyk et al.   GENE THERAPY

Diabetes enhances the efficacy of AAV2 vectors in the retina: therapeutic effect of AAV2 encoding vasoinhibin and soluble VEGF receptor 1

(2015) Nundehui Díaz-Lezama et al.   LABORATORY INVESTIGATION

Gene therapy with recombinant adeno-associated vectors for neovascular age-related macular degeneration: 1 year follow-up of a phase 1 randomised clinical trial

(2015) Elizabeth P Rakoczy et al.   LANCET

Age-related macular degeneration and the role of the complement system

(2015) Selina McHarg et al.   MOLECULAR IMMUNOLOGY

$1-million price tag set for Glybera gene therapy

(2015) Chris Morrison   NATURE BIOTECHNOLOGY

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

(2015) Susanne Kohl et al.   NATURE GENETICS

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

(2015) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Improvement and Decline in Vision with Gene Therapy in Childhood Blindness

(2015) Samuel G. Jacobson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Macular Degeneration

(2015) Sonia Mehta   PRIMARY CARE

The Status ofRPE65Gene Therapy Trials: Safety and Efficacy

(2015) Eric A. Pierce et al.   Cold Spring Harbor Perspectives in Medicine

Future Therapies of Wet Age-Related Macular Degeneration

(2015) Makoto Ishikawa et al.   Journal of Ophthalmology

CRISPR genome engineering and viral gene delivery: A case of mutual attraction

(2015) Florian Schmidt et al.   Biotechnology Journal

Advances in therapeutic strategies for Leber’s hereditary optic neuropathy

(2015) Rustum Karanjia et al.   Expert Opinion on Orphan Drugs

Review and update on the molecular basis of Leber congenital amaurosis

(2015) Oscar Francisco Chacon-Camacho   World Journal of Clinical Cases

Basic Biology of Adeno-Associated Virus (AAV) Vectors Used in Gene Therapy

(2014) Balaji Balakrishnan et al.   CURRENT GENE THERAPY

Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis

(2014) Tao Zhang et al.   HUMAN MOLECULAR GENETICS

Adeno-associated virus 8-mediated gene therapy for choroideremia: preclinical studies inin vitroandin vivomodels

(2014) Aaron Black et al.   JOURNAL OF GENE MEDICINE

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

(2014) Robert E MacLaren et al.   LANCET

Global Prevalence of Glaucoma and Projections of Glaucoma Burden through 2040

(2014) Yih-Chung Tham et al.   OPHTHALMOLOGY

EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B: Development of UshStat

(2014) Marisa Zallocchi et al.   PLoS One

Dual Adeno-Associated Virus Vectors Result in Efficient In Vitro and In Vivo Expression of an Oversized Gene, MYO7A

(2014) Frank M. Dyka et al.   Human Gene Therapy Methods

Trial End Points and Natural History in Patients With G11778A Leber Hereditary Optic Neuropathy

(2014) Byron L. Lam et al.   JAMA Ophthalmology

Current choice of treatments for neovascular AMD

(2014) Kevin Lai et al.   Expert Review of Clinical Pharmacology

Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis

(2014) Wan Ling Wong et al.   Lancet Global Health

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus

(2013) V S Lopes et al.   GENE THERAPY

Successful Gene Therapy in Older Rpe65-Deficient Dogs Following Subretinal Injection of an Adeno-Associated Vector Expressing RPE65

(2013) Matthew J. Annear et al.   HUMAN GENE THERAPY

Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

(2013) Francesco Testa et al.   OPHTHALMOLOGY

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

(2013) A. V. Cideciyan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

In Vivo-Directed Evolution of a New Adeno-Associated Virus for Therapeutic Outer Retinal Gene Delivery from the Vitreous

(2013) D. Dalkara et al.   Science Translational Medicine

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

(2012) Susanne Kohl et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RPE65 gene therapy slows cone loss in Rpe65-deficient dogs

(2012) F M Mowat et al.   GENE THERAPY

Endgame: Glybera Finally Recommended for Approval as the First Gene Therapy Drug in the European Union

(2012) Seppo Ylä-Herttuala   MOLECULAR THERAPY

Corneal Transduction by Intra-Stromal Injection of AAV Vectors In Vivo in the Mouse and Ex Vivo in Human Explants

(2012) Claire Hippert et al.   PLoS One

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

(2012) W. A. Beltran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations

(2011) Samuel G. Jacobson   ARCHIVES OF OPHTHALMOLOGY

Key enzymes of the retinoid (visual) cycle in vertebrate retina

(2011) Philip D. Kiser et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Gene therapy for retinal ganglion cell neuroprotection in glaucoma

(2011) A M Wilson et al.   GENE THERAPY

ACE2 and Ang-(1-7) Confer Protection Against Development of Diabetic Retinopathy

(2011) Amrisha Verma et al.   MOLECULAR THERAPY

Dosage Thresholds for AAV2 and AAV8 Photoreceptor Gene Therapy in Monkey

(2011) L. H. Vandenberghe et al.   Science Translational Medicine

Gene therapy for ocular diseases

(2010) M. M. Liu et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Gene therapy in the second eye of RPE65-deficient dogs improves retinal function

(2010) M J Annear et al.   GENE THERAPY

Prevalence of Serum IgG and Neutralizing Factors Against Adeno-Associated Virus (AAV) Types 1, 2, 5, 6, 8, and 9 in the Healthy Population: Implications for Gene Therapy Using AAV Vectors

(2010) Sylvie Boutin et al.   HUMAN GENE THERAPY

Neuroglobin Protects Neurons against Oxidative Stress in Global Ischemia

(2010) Richard Changxun Li et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse

(2009) T K Park et al.   GENE THERAPY

Neuroglobin and Prion Cellular Localization: Investigation of a Potential Interaction

(2009) Christophe Lechauve et al.   JOURNAL OF MOLECULAR BIOLOGY

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

(2009) Albert M Maguire et al.   LANCET

Fundus Autofluorescence in Carriers of Choroideremia and Correlation with Electrophysiologic and Psychophysical Data

(2009) Markus N. Preising et al.   OPHTHALMOLOGY

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

(2009) B. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene Therapy Using Adeno-Associated Virus Vectors

(2008) S. Daya et al.   CLINICAL MICROBIOLOGY REVIEWS

AAV-mediated gene therapy for retinal disorders: from mouse to man

(2008) P K Buch et al.   GENE THERAPY

Mitochondrial Gene Therapy: An Evaluation of Strategies for the Treatment of Mitochondrial DNA Disorders

(2008) Stephen R. Doyle et al.   HUMAN GENE THERAPY

Adeno-associated virus-mediated gene transfer

(2008) Arun Srivastava   JOURNAL OF CELLULAR BIOCHEMISTRY

Blockade of Angiotensin II Attenuates VEGF-Mediated Blood—Retinal Barrier Breakdown in Diabetic Retinopathy

(2008) Jeong Hun Kim et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Reversal of Blindness in Animal Models of Leber Congenital Amaurosis Using Optimized AAV2-mediated Gene Transfer

(2008) Jeannette Bennicelli et al.   MOLECULAR THERAPY

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE