Related references
Note: Only part of the references are listed.Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy
Kristin L. Gardiner et al.
MOLECULAR THERAPY (2020)
The macular carotenoids: A biochemical overview
Ranganathan Arunkumar et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2020)
Orientation and mobility outcome measures
Kuo-yi Jade Chang et al.
CLINICAL AND EXPERIMENTAL OPTOMETRY (2020)
Late presentation of RPE65 retinopathy in three siblings
Moustafa Magliyah et al.
DOCUMENTA OPHTHALMOLOGICA (2020)
RPE65 and retinal dystrophy: Report of new and recurrent mutations
Shamsi Safari et al.
JOURNAL OF GENE MEDICINE (2020)
Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives
Alexandra Garafalo et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2020)
LONGITUDINAL STUDY OFRPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS
Laurence H. M. Pierrache et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2020)
Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy
T. J. Hollingsworth et al.
CELLS (2020)
Suprachoroidal and Subretinal Injections of AAV Using Transscleral Microneedles for Retinal Gene Delivery in Nonhuman Primates
Glenn Yiu et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2020)
Quantitative Autofluorescence Following Gene Therapy With Voretigene Neparvovec
Sarah R. Levi et al.
JAMA OPHTHALMOLOGY (2020)
Microglia Inhibition Delays Retinal Degeneration Due to MerTK Phagocytosis Receptor Deficiency
Deborah S. Lew et al.
FRONTIERS IN IMMUNOLOGY (2020)
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium
Debra A. Thompson et al.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY (2020)
Shedding new light on the generation of the visual chromophore
Krzysztof Palczewski et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy
Paul F. Kenna et al.
BMJ OPEN OPHTHALMOLOGY (2020)
Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa
Paul Yang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2020)
Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65
Ruben Jauregui et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2020)
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
Katherine E. Uyhazi et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2020)
Intraoperative Use of Microscope-Integrated Optical Coherence Tomography for Subretinal Gene Therapy Delivery
Ninel Z. Gregori et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2019)
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene
Daniel C. Chung et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2019)
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy Results of Phase 1 and 3 Trials
Albert M. Maguire et al.
OPHTHALMOLOGY (2019)
Surgical Technique for Subretinal Gene Therapy in Humans with Inherited Retinal Degeneration
Janet L. Davis et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2019)
Safety of Same-Eye Subretinal Sequential Readministration of AAV2-hRPE65v2 in Non-human Primates
Lindsey Weed et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2019)
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy
Unikora Yang et al.
JAMA OPHTHALMOLOGY (2019)
Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation
Yan Li et al.
HUMAN MUTATION (2019)
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Artur V. Cideciyan et al.
NATURE MEDICINE (2019)
Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy
Mark E. Pennesi et al.
HUMAN GENE THERAPY (2018)
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65
Elliot H. Choi et al.
HUMAN MOLECULAR GENETICS (2018)
Retinal-chitosan Conjugates Effectively Deliver Active Chromophores to Retinal Photoreceptor Cells in Blind Mice and Dogs
Songqi Gao et al.
MOLECULAR PHARMACOLOGY (2018)
Safety First: Perspective on Patient-Centered Development of AAV Gene Therapy Products
Barry J. Byrne
MOLECULAR THERAPY (2018)
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery
Catherine Cukras et al.
MOLECULAR THERAPY (2018)
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with &ITRPE65 &ITLeber Congenital Amaurosis
Guylene Le Meur et al.
MOLECULAR THERAPY (2018)
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa
Ruben Jauregui et al.
OPHTHALMIC GENETICS (2018)
The mechanism of cone cell death in Retinitis Pigmentosa
Peter A. Campochiaro et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2018)
The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases
Janet L. Davis
AMERICAN JOURNAL OF OPHTHALMOLOGY (2018)
Breaking and Sealing Barriers in Retinal Gene Therapy
Joan W. Miller et al.
MOLECULAR THERAPY (2018)
Gene therapy for RPE65-related retinal disease
Virginia Miraldi Utz et al.
OPHTHALMIC GENETICS (2018)
The influence of subretinal injection pressure on the microstructure of the monkey retina
Kosuke Takahashi et al.
PLOS ONE (2018)
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis
Neruban Kumaran et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis
Neruban Kumaran et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
Humoral Immune Response After Intravitreal But Not After Subretinal AAV8 in Primates and Patients
Felix F. Reichel et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
Novel mobility test to assess functional vision in patients with inherited retinal dystrophies
Daniel C. Chung et al.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2018)
Noninvasive gene delivery to foveal cones for vision restoration
Hanen Khabou et al.
JCI INSIGHT (2018)
Technique of retinal gene therapy: delivery of viral vector into the subretinal space
K. Xue et al.
EYE (2017)
Lentiviral Vector Gene Transfer of Endostatin/Angiostatin for Macular Degeneration (GEM) Study
Peter A. Campochiaro et al.
HUMAN GENE THERAPY (2017)
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Stephen Russell et al.
LANCET (2017)
Improved Intravitreal AAV-Mediated Inner Retinal Gene Transduction after Surgical Internal Limiting Membrane Peeling in Cynomolgus Monkeys
Kazuhisa Takahashi et al.
MOLECULAR THERAPY (2017)
The Role of the Human Visual Cortex in Assessment of the Long-Term Durability of Retinal Gene Therapy in Follow-on RPE65 Clinical Trial Patients
Manzar Ashtari et al.
OPHTHALMOLOGY (2017)
Natural History of the Central Structural Abnormalities in Choroideremia A Prospective Cross-Sectional Study
Tomas S. Aleman et al.
OPHTHALMOLOGY (2017)
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Edwin M. Stone et al.
OPHTHALMOLOGY (2017)
Retinal Gene Therapy: Surgical Vector Delivery in the Translation to Clinical Trials
G. Alex Ochakovski et al.
FRONTIERS IN NEUROSCIENCE (2017)
Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman Primates
Immanuel P. Seitz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2017)
Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?
Michelle Hendriks et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2017)
Subretinal Injection for Gene Therapy Does Not Cause Clinically Significant Outer Nuclear Layer Thinning in Normal Primate Foveae
G. Alex Ochakovski et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2017)
Early-Onset Progressive Degeneration of the Area Centralis in RPE65-Deficient Dogs
Freya M. Mowat et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2017)
A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice
Younghwa Shin et al.
AMERICAN JOURNAL OF PATHOLOGY (2017)
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations
Sarah Hull et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2016)
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65
A. Georgiadis et al.
GENE THERAPY (2016)
Highly Efficient Delivery of Adeno-Associated Viral Vectors to the Primate Retina
Shannon E. Boye et al.
HUMAN GENE THERAPY (2016)
Visual Acuity after Retinal Gene Therapy for Choroideremia
Thomas L. Edwards et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Five-Year Safety and Performance Results from the Argus II Retinal Prosthesis System Clinical Trial
Lyndon da Cruz et al.
OPHTHALMOLOGY (2016)
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy
Richard G. Weleber et al.
OPHTHALMOLOGY (2016)
Lutein, zeaxanthin, and meso-zeaxanthin: The basic and clinical science underlying carotenoid-based nutritional interventions against ocular disease
Paul S. Bernstein et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2016)
Evaluation of an Optimized Injection System for Retinal Gene Therapy in Human Patients
M. Dominik Fischer et al.
HUMAN GENE THERAPY METHODS (2016)
Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials
David B. McGuigan et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2016)
Long-Term Effect of Gene Therapy on Leber's Congenital Amaurosis
J. W. B. Bainbridge et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Improvement and Decline in Vision with Gene Therapy in Childhood Blindness
Samuel G. Jacobson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Long-Term Results from an Epiretinal Prosthesis to Restore Sight to the Blind
Allen C. Ho et al.
OPHTHALMOLOGY (2015)
Plasticity of the human visual system after retinal gene therapy in patients with Leber's congenital amaurosis
Manzar Ashtari et al.
SCIENCE TRANSLATIONAL MEDICINE (2015)
Improvement in vision: a new goal for treatment of hereditary retinal degenerations
Samuel G. Jacobson et al.
EXPERT OPINION ON ORPHAN DRUGS (2015)
Pseudo-Fovea Formation After Gene Therapy for RPE65-LCA
Artur V. Cideciyan et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
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 et al.
PLOS ONE (2015)
Autofluorescence Imaging With Near-Infrared Excitation: Normalization by Reflectance to Reduce Signal From Choroidal Fluorophores
Artur V. Cideciyan et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Intraoperative optical coherence tomography using the RESCAN 700: preliminary results from the DISCOVER study
Justis P. Ehlers et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2014)
Efficient transduction and optogenetic stimulation of retinal bipolar cells by a synthetic adeno-associated virus capsid and promoter
Therese Cronin et al.
EMBO MOLECULAR MEDICINE (2014)
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial
Robert K. Koenekoop et al.
LANCET (2014)
A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro
Guoyan Mo et al.
PLOS ONE (2014)
RPE65 gene therapy slows cone loss in Rpe65-deficient dogs
F. M. Mowat et al.
GENE THERAPY (2013)
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
Artur V. Cideciyan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
In Vivo-Directed Evolution of a New Adeno-Associated Virus for Therapeutic Outer Retinal Gene Delivery from the Vitreous
Deniz Dalkara et al.
SCIENCE TRANSLATIONAL MEDICINE (2013)
QLT091001, a 9-cis-Retinal Analog, Is Well-Tolerated by Retinas of Mice with Impaired Visual Cycles
Tadao Maeda et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Intervisit Variability of Visual Parameters in Leber Congenital Amaurosis Caused by RPE65 Mutations
Alejandro J. Roman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development
Tom R. Webb et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Maturation of the Human Fovea: Correlation of Spectral-Domain Optical Coherence Tomography Findings With Histology
Lejla Vajzovic et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2012)
Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years
Samuel G. Jacobson et al.
ARCHIVES OF OPHTHALMOLOGY (2012)
Functional and Anatomic Consequences of Subretinal Dosing in the Cynomolgus Macaque
T. Michael Nork et al.
ARCHIVES OF OPHTHALMOLOGY (2012)
Optogenetic therapy for retinitis pigmentosa
V. Busskamp et al.
GENE THERAPY (2012)
The susceptibility of the retina to photochemical damage from visible light
Jennifer J. Hunter et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2012)
AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness
Jean Bennett et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
Sara J. Bowne et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
The human visual cortex responds to gene therapy-mediated recovery of retinal function
Manzar Ashtari et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65
Patrik Schatz et al.
OPHTHALMOLOGY (2011)
The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation of RPE65 and Differentiation from Leber Congenital Amaurosis
Richard G. Weleber et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Histopathology and Functional Correlations in a Patient with a Mutation in RPE65, the Gene for Retinol Isomerase
Vera L. Bonilha et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Improvement of Visual Performance With Intravitreal Administration of 9-cis-Retinal in Rpe65-Mutant Dogs
Patricia M. Gearhart et al.
ARCHIVES OF OPHTHALMOLOGY (2010)
Molecular Anthropology Meets Genetic Medicine to Treat Blindness in the North African Jewish Population: Human Gene Therapy Initiated in Israel
Eyal Banin et al.
HUMAN GENE THERAPY (2010)
Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
Francesca Simonelli et al.
MOLECULAR THERAPY (2010)
Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa
Saloni Walia et al.
OPHTHALMOLOGY (2010)
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
Artur V. Cideciyan
PROGRESS IN RETINAL AND EYE RESEARCH (2010)
Safety and Efficacy of Subretinal Readministration of a Viral Vector in Large Animals to Treat Congenital Blindness
Defne Amado et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
Retinal Disease in Rpe65-Deficient Mice: Comparison to Human Leber Congenital Amaurosis Due to RPE65 Mutations
Rafael C. Caruso et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Differential Macular Morphology in Patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-Related Leber Congenital Amaurosis
Sirichai Pasadhika et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Psychophysical assessment of low visual function in patients with retinal degenerative diseases (RDDs) with the Diagnosys full-field stimulus threshold (D-FST)
M. Klein et al.
DOCUMENTA OPHTHALMOLOGICA (2009)
Human RPE65 Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year
Artur V. Cideciyan et al.
HUMAN GENE THERAPY (2009)
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate
Tadao Maeda et al.
HUMAN MOLECULAR GENETICS (2009)
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
Albert M. Maguire et al.
LANCET (2009)
Evaluation of 9-cis-Retinyl Acetate Therapy in Rpe65-/- Mice
Tadao Maeda et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Defining the Residual Vision in Leber Congenital Amaurosis Caused by RPE65 Mutations
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
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 et al.
HUMAN GENE THERAPY (2008)
Reversal of blindness in animal models of Leber congenital amaurosis using optimized AAV2-mediated gene transfer
Jeannette Bennicelli et al.
MOLECULAR THERAPY (2008)
Light-activated channels targeted to ON bipolar cells restore visual function in retinal degeneration
Pamela S. Lagali et al.
NATURE NEUROSCIENCE (2008)
Safety and efficacy of gene transfer for Leber's congenital amaurosis
Albert M. Maguire et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Effect of gene therapy on visual function in Leber's congenital amaurosis
James W. B. Bainbridge et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
Artur V. Cideciyan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
A Comprehensive Clinical and Biochemical Functional Study of a Novel RPE65 Hypomorphic Mutation
Birgit Lorenz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Photoreceptor layer topography in children with Leber congenital amaurosis caused by RPE65 mutations
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Leber congenital amaurosis - A model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson memorial lecture
Edwin M. Stone
AMERICAN JOURNAL OF OPHTHALMOLOGY (2007)
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations
Tomas S. Aleman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Human cone photoreceptor dependence on RPE65 isomerase
Samuel G. Jacobson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients
Francesca Simonelli et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials
Alejandro J. Roman et al.
PHYSIOLOGICAL MEASUREMENT (2007)
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation
Geoffrey K. Aguirre et al.
PLOS MEDICINE (2007)
Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations
Artur V. Cideciyan et al.
JOURNAL OF THE OPTICAL SOCIETY OF AMERICA A-OPTICS IMAGE SCIENCE AND VISION (2007)
Macular pigment and lutein supplementation in ABC44-associated retinal degenerations
Tomas S. Aleman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene
Leila El Matri et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2006)
Measuring mobility performance: experience gained in designing a mobility course
Susan J. Leat et al.
CLINICAL AND EXPERIMENTAL OPTOMETRY (2006)
RPE65 gene delivery restores isomerohydrolase activity and prevents early cone loss in Rpe65-/- mice
Y Chen et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness
GM Acland et al.
MOLECULAR THERAPY (2005)
Cone opsin mislocalization in Rpe65-/- mice:: A defect that can be corrected by 11-cis retinal
B Rohrer et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle
TM Redmond et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations
K Paunescu et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2005)
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
SG Jacobson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa
AV Cideciyan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures
AJ Roman et al.
EXPERIMENTAL EYE RESEARCH (2005)
Clinical phenotypes in carriers of Leber congenital amaurosis mutations
JA Galvin et al.
OPHTHALMOLOGY (2005)
Impairment of the transient pupillary light reflex in Rpe65-/- mice and humans with Leber congenital amaurosis
TS Aleman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
In utero gene therapy rescues vision in a murine model of congenital blindness
NS Dejneka et al.
MOLECULAR THERAPY (2004)
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65
B Lorenz et al.
OPHTHALMOLOGY (2004)
An overview of Leber congenital amaurosis: A model to understand human retinal development
RK Koenekoop
SURVEY OF OPHTHALMOLOGY (2004)
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
S Yzer et al.
JOURNAL OF MEDICAL GENETICS (2003)
Gene transfer in the RPE65 null mutation dog:: relationship between construct volume, visual behavior and electroretinographic (ERG) results
M Ford et al.
DOCUMENTA OPHTHALMOLOGICA (2003)
Cone photoreceptor recovery after experimental detachment and reattachment: An immunocytochemical, morphological, and electrophysiological study
T Sakai et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
Gene therapy restores vision in a canine model of childhood blindness
GM Acland et al.
NATURE GENETICS (2001)
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
JP Van Hooser et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)