Gene Therapy in Retinal Dystrophies

Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10

(2019) Morgan L. Maeder et al.   NATURE MEDICINE

In Vitro Gene Delivery in Retinal Pigment Epithelium Cells by Plasmid DNA-Wrapped Gold Nanoparticles

(2019) Trigueros et al.   Genes

Adeno-Associated Viral Vectors as a Tool for Large Gene Delivery to the Retina

(2019) Trapani   Genes

In vivo genome editing rescues photoreceptor degeneration via a Cas9/RecA-mediated homology-directed repair pathway

(2019) Yuan Cai et al.   Science Advances

Retinal AAV8- RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery

(2018) Catherine Cukras et al.   MOLECULAR THERAPY

The primate fovea: Structure, function and development

(2018) Andreas Bringmann et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases

(2018) Janet L. Davis   AMERICAN JOURNAL OF OPHTHALMOLOGY

Molecular biology tools for the study and therapy of PDE6β mutations

(2018) Diogo B. Bitoque et al.   JOURNAL OF BIOTECHNOLOGY

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

(2018) Kalyan Dulla et al.   Molecular Therapy-Nucleic Acids

Lymphatic vessels of the eye – old questions – new insights

(2018) Johannes Grüntzig et al.   ANNALS OF ANATOMY-ANATOMISCHER ANZEIGER

Insight into Cellular Uptake and Intracellular Trafficking of Nanoparticles

(2018) Parisa Foroozandeh et al.   Nanoscale Research Letters

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

(2018) Artur V. Cideciyan et al.   NATURE MEDICINE

Gene therapy for inherited retinal and optic nerve degenerations

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

Genetics of age-related macular degeneration (AMD)

(2017) Margaret M. DeAngelis et al.   HUMAN MOLECULAR GENETICS

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

(2017) Suzanne Broadgate et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Evaluation of tolerance to lentiviral LV-RPE65 gene therapy vector after subretinal delivery in non-human primates

(2017) Alexandre Matet et al.   Translational Research

Retinal Gene Therapy: Surgical Vector Delivery in the Translation to Clinical Trials

(2017) G. Alex Ochakovski et al.   Frontiers in Neuroscience

Correction of Monogenic and Common Retinal Disorders with Gene Therapy

(2017) Jesse Sengillo et al.   Genes

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

(2016) Preena Tanna et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies

(2016) F S Sorrentino et al.   EYE

Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function

(2016) Ronald A. Bush et al.   HUMAN GENE THERAPY

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

(2016) Mariya Moosajee et al.   HUMAN MOLECULAR GENETICS

Genome-editing Technologies for Gene and Cell Therapy

(2016) Morgan L Maeder et al.   MOLECULAR THERAPY

CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa

(2016) Wen-Hsuan Wu et al.   MOLECULAR THERAPY

In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration

(2016) Keiichiro Suzuki et al.   NATURE

Visual Acuity after Retinal Gene Therapy for Choroideremia

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

Clinical and Genetic Features of Choroideremia in Childhood

(2016) Kamron N. Khan et al.   OPHTHALMOLOGY

Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice

(2016) Dario Marangoni et al.   Molecular Therapy-Methods & Clinical Development

Gold Nanoparticles: Recent Advances in the Biomedical Applications

(2015) Xiaoying Zhang   CELL BIOCHEMISTRY AND BIOPHYSICS

Achromatopsia

(2015) Meredith H. Remmer et al.   CURRENT OPINION IN OPHTHALMOLOGY

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

(2015) D. A. Thompson et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Adenovirus-mediated delivery of Factor H attenuates complement C3 induced pathology in the murine retina: a potential gene therapy for age-related macular degeneration

(2015) Siobhan M. Cashman et al.   JOURNAL OF GENE MEDICINE

Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies

(2015) Steven D Schwartz et al.   LANCET

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

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

The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies

(2015) Ralph W.N. Slijkerman et al.   PROGRESS IN RETINAL AND EYE RESEARCH

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

(2015) C. E. Nelson et al.   SCIENCE

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

(2015) Xavier Gérard et al.   Molecular Therapy-Nucleic Acids

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

(2014) Robert E MacLaren et al.   LANCET

Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype

(2014) Hao Yin et al.   NATURE BIOTECHNOLOGY

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

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

One-Step Generation of Mice Carrying Reporter and Conditional Alleles by CRISPR/Cas-Mediated Genome Engineering

(2013) Hui Yang et al.   CELL

Double Nicking by RNA-Guided CRISPR Cas9 for Enhanced Genome Editing Specificity

(2013) F. Ann Ran et al.   CELL

Correction of a Genetic Disease in Mouse via Use of CRISPR-Cas9

(2013) Yuxuan Wu et al.   Cell Stem Cell

Reading Frame Correction by Targeted Genome Editing Restores Dystrophin Expression in Cells From Duchenne Muscular Dystrophy Patients

(2013) David G Ousterout et al.   MOLECULAR 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

AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models

(2013) Vidyullatha Vasireddy et al.   PLoS One

Obligate Ligation-Gated Recombination (ObLiGaRe): Custom-designed nuclease-mediated targeted integration through nonhomologous end joining

(2012) M. Maresca et al.   GENOME RESEARCH

Long-Term Rescue of Retinal Structure and Function by Rhodopsin RNA Replacement with a Single Adeno-Associated Viral Vector in P23H RHO Transgenic Mice

(2012) Haoyu Mao et al.   HUMAN GENE THERAPY

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

X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

(2012) Robert S. Molday et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The privileged immunity of immune privileged organs: the case of the eye

(2012) Inbal Benhar et al.   Frontiers in Immunology

Homozygous Mutation in MERTK Causes Severe Autosomal Recessive Retinitis Pigmentosa

(2011) Mohamed Ksantini et al.   EUROPEAN JOURNAL OF OPHTHALMOLOGY

Blood-Retinal Barrier

(2010) José Cunha-Vaz et al.   EUROPEAN JOURNAL OF OPHTHALMOLOGY

Non-viral siRNA delivery into the mouse retina in vivo

(2010) Andrey Turchinovich et al.   BMC Ophthalmology

Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors

(2009) Mei Hong Tan et al.   HUMAN MOLECULAR GENETICS

RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy

(2009) Xue Cai et al.   OPHTHALMIC GENETICS

Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy

(2008) J Kong et al.   GENE THERAPY

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

(2008) William W. Hauswirth et al.   HUMAN GENE THERAPY

Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice

(2008) Mariacarmela Allocca et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2008) Jeannette Bennicelli et al.   MOLECULAR THERAPY

Effect of Late-stage Therapy on Disease Progression in AAV-mediated Rescue of Photoreceptor Cells in the Retinoschisin-deficient Mouse

(2008) Andreas Janssen 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

Versatility of AAV vectors for retinal gene transfer

(2007) Enrico M. Surace et al.   VISION RESEARCH