Presentation

Detailed Clinical Characterisation, Unique Features, and Natural History of Autosomal Recessive RDH12-Associated Retinal Degeneration

Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy

RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function

Aleman et al., Investigative Ophthalmology and Visual Science 2018

Mutation-Independent Rhodopsin Gene Therapy by Knockdown and Replacement with a Single AAV Vector

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness

Song et al., Molecular Therapy 2018

BEST1 Gene Therapy Corrects a Diffuse Retina-Wide Microdetachment Modulated by Light Exposure

Bestrophinopathy: An RPE-Photoreceptor Interface Disease

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

Greenwald et al., American Journal of Pathology 2016

Gene Augmentation for AdRP Mutations in RHO

Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epithelium: Analysis of Serotype-Dependent Retinal Effects