Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
A comprehensive review of retinal gene therapy
Blindness, although not life threatening, is a debilitating disorder for which few, if any
treatments exist. Ocular gene therapies have the potential to profoundly improve the quality …
treatments exist. Ocular gene therapies have the potential to profoundly improve the quality …
In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration
Leber congenital amaurosis (LCA) is the most common cause of inherited retinal
degeneration in children. LCA patients with RPE65 mutations show accelerated cone …
degeneration in children. LCA patients with RPE65 mutations show accelerated cone …
Vector platforms for gene therapy of inherited retinopathies
I Trapani, A Puppo, A Auricchio - Progress in retinal and eye research, 2014 - Elsevier
Inherited retinopathies (IR) are common untreatable blinding conditions. Most of them are
inherited as monogenic disorders, due to mutations in genes expressed in retinal …
inherited as monogenic disorders, due to mutations in genes expressed in retinal …
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
AV Cideciyan - Progress in retinal and eye research, 2010 - Elsevier
Leber congenital amaurosis (LCA) is a rare hereditary retinal degeneration caused by
mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly …
mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly …
Dual-AAV split prime editor corrects the mutation and phenotype in mice with inherited retinal degeneration
K She, Y Liu, Q Zhao, X Jin, Y Yang, J Su, R Li… - Signal transduction and …, 2023 - nature.com
The prime editor (PE) can edit genomes with almost any intended changes, including all 12
possible types of base substitutions, small insertions and deletions, and their combinations …
possible types of base substitutions, small insertions and deletions, and their combinations …
Structural characterization of the dual glycan binding adeno-associated virus serotype 6
R Ng, L Govindasamy, BL Gurda, R McKenna… - Journal of …, 2010 - Am Soc Microbiol
The three-dimensional structure of adeno-associated virus (AAV) serotype 6 (AAV6) was
determined using cryo-electron microscopy and image reconstruction and using X-ray …
determined using cryo-electron microscopy and image reconstruction and using X-ray …
Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa
The retinal degeneration 10 (rd10) mouse is a well-characterized model of autosomal
recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the β subunit of …
recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the β subunit of …
Clinical applications of retinal gene therapy
Many currently incurable forms of blindness affecting the retina have a genetic etiology and
several others, such as those resulting from retinal vascular disturbances, respond to …
several others, such as those resulting from retinal vascular disturbances, respond to …
The human rhodopsin kinase promoter in an AAV5 vector confers rod-and cone-specific expression in the primate retina
Adeno-associated virus (AAV) has proven an effective gene delivery vehicle for the
treatment of retinal disease. Ongoing clinical trials using a serotype 2 AAV vector to express …
treatment of retinal disease. Ongoing clinical trials using a serotype 2 AAV vector to express …