BEST1
May 2025 :
Consideration of Endpoints for the First Interventional Gene Therapy Clinical Study in Inherited Retinal Diseases Caused by BEST1 Mutations
Tucker, et al., AOS » View Details
September 2023 :
Development Of Opgx-BEST1 AAV Gene Therapy for the Treatment of Bestrophinopathies
Choudhary, et al., Retinal Degeneration Conference » View Details
September 2018 :
Mutation-Independent Rhodopsin Gene Therapy by Knockdown and Replacement with a Single AAV Vector
Cideciyan, Artur V., et al., Proceedings of the National Academy of Sciences » View Details
March 2018 :
BEST1 Gene Therapy Corrects a Diffuse Retina-Wide Microdetachment Modulated by Light Exposure
Guziewicz, Karina E., et al., Proceedings of the National Academy of Sciences of the United States of America » View Details
May 2017 :
Bestrophinopathy: An RPE-Photoreceptor Interface Disease
Guziewicz, Karina E., et al., Progress in Retinal and Eye Research » View Details
October 2013 :
Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epithelium: Analysis of Serotype-Dependent Retinal Effects
Guziewicz, Karina E., et al., PLoS ONE » View Details
November 2011 :
Modeling the Structural Consequences of BEST1 Missense Mutations
Guziewicz, Karina E., et al., Advances in Experimental Medicine and Biology » View Details
June 2011 :
Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies
Guziewicz, Karina E., et al., Investigative Ophthalmology & Visual Science » View Details
LCA5
September 2025 :
One Year Results from a Phase 1/2 Study of OPGx-LCA5 Subretinal Gene Therapy for the Treatment of LCA5-LCA in Adult Participants
Jayagopal, RD International Symposium » View Details
June 2025 :
Recovery of Cone-Mediated Vision in Lebercilin-Associated Severe Retinal Ciliopathy (LCA5) after Gene Therapy: One Year Results of a Phase Ib/IIa Trial
Aleman, et al., Molecular Therapy » View Details
May 2025 :
Utilizing Virtual Reality Guided Multi-Luminance Orientation and Mobility Testing for Assessment of Visual Function
Jayagopal, Retinal Imaging Biomarkers & Endpoints Summit » View Details
May 2025 :
Recovery of Cone-Mediated Vision in a Severe Ciliopathy after Gene Augmentation: One Year Results of a Phase Ib/IIa Trial for LCA5-LCA
Aleman, ARVO » View Details
January 2022 :
Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis
O’Connor, et al., American Journal of Ophthalmology Case Reports » View Details
May 2020 :
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
Uyhazi et al., Investigative Ophthalmology and Visual Science 2020 » View Details
March 2018 :
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness
Song et al., Molecular Therapy 2018 » View Details
RDH12
May 2025 :
Evaluation of Ocular Tolerability of OPGx-RDH12 by Subretinal Delivery in Cynomolgus Primates
Jayagopal, et al., ARVO » View Details
May 2021 :
Gene Therapy for Rdh12-Associated Retinal Diseases Helps to Delay Retinal Degeneration and Vision Loss
Bian, J., et al., Drug Design, Development and Therapy » View Details
December 2019 :
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration
Fahim, A. T., et al., Advances in Experimental Medicine and Biology » View Details
November 2019 :
Detailed Clinical Characterisation, Unique Features, and Natural History of Autosomal Recessive RDH12-Associated Retinal Degeneration
Fahim, A. T., et al., British Journal of Ophthalmology » View Details
November 2019 :
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy
Feathers, K. L., et al., Human Gene Therapy » View Details
October 2018 :
RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function
Aleman et al., Investigative Ophthalmology and Visual Science 2018 » View Details
NMNAT1
November 2021 :
Reduced nuclear NAD+ drives DNA damage and subsequent immune activation in the retina
Brown et al., Human Molecular Genetics 2021 » View Details
May 2021 :
Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration
Greenwald et al., Human Molecular Genetics 2021 » View Details
July 2020 :
Gene Therapy Preserves Retinal Structure and Function in a Mouse Model of NMNAT1-Associated Retinal Degeneration
Greenwald et al., Molecular Therapy: Methods and Clinical Development, 2020 » View Details
July 2016 :
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease
Greenwald et al., American Journal of Pathology 2016 » View Details
September 2012 :
NMNAT1 mutations cause Leber congenital amaurosis.
Falk et al., Nature Genetics 2012 » View Details
RHO
July 2014 :
Gene Augmentation for AdRP Mutations in RHO
Lewin, Alfred S., et al., Cold Spring Harbor Perspectives in Medicine >> » View Details
January 2012 :
Long-Term Rescue of Retinal Structure and Function by Rhodopsin RNA Replacement with a Single Adeno-Associated Viral Vector in P23H RHO Transgenic Mice
Mao, Haoyu, et al., Human Gene Therapy » View Details
MERTK
May 2025 :
Evaluation of MERTK Gene Therapy in RCS Rats Following a Single Bilateral Subretinal Injection
Choudhary, et al., ASGCT » View Details
May 2025 :
Evaluation of MERTK Gene Therapy in RCS Rats Following a Single Bilateral Subretinal Injection
Choudhary, et al., ARVO » View Details
