Gene therapy for RPE65-related retinal disease

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis

(2018) Guylène Le Meur et al.   MOLECULAR THERAPY

Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa

(2018) Ruben Jauregui et al.   OPHTHALMIC GENETICS

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

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

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

(2017) Razek Georges Coussa et al.   OPHTHALMIC GENETICS

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial

(2016) Jean Bennett et al.   LANCET

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

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

(2015) Galuh D N Astuti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

Recommendations for Genetic Testing of Inherited Eye Diseases

(2012) Edwin M. Stone et al.   OPHTHALMOLOGY

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

(2011) Sara J Bowne et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

From the Laboratory to the Clinic: Molecular Genetic Testing in Pediatric Ophthalmology

(2009) Arlene V. Drack et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Human RPE65 Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year

(2009) Artur V. Cideciyan et al.   HUMAN GENE THERAPY

Predicting the pathogenicity ofRPE65mutations

(2009) A.R. Philp et al.   HUMAN MUTATION

Which Leber congenital amaurosis patients are eligible for gene therapy trials?

(2009) Arlene V. Drack et al.   JOURNAL OF AAPOS

Vision 1 Year after Gene Therapy for Leber's Congenital Amaurosis

(2009) Artur V. Cideciyan et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2009) Xue Cai et al.   OPHTHALMIC GENETICS

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

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

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

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

(2008) A. V. Cideciyan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA