Suprachoroidal and Subretinal Injections of AAV Using Transscleral Microneedles for Retinal Gene Delivery in Nonhuman Primates. [PDF]
, 2020 Retinal gene therapy using adeno-associated viruses (AAVs) is constrained by the mode of viral vector delivery. Intravitreal AAV injections are impeded by the internal limiting membrane barrier, while subretinal injections require invasive surgery and ...
Chung, Sook Hyun +7 more
core
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.
PLoS ONE, 2018 Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies (IRD) and the most frequent cause of inherited blindness in children.
Nicole Weisschuh +6 more
doaj +1 more source
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal [PDF]
, 2017 RPE65 is a retinal pigment epithelial protein essential for the regeneration of 11-cis-retinal, the chromophore of cone and rod visual pigments. Mutations in RPE65 lead to a spectrum of retinal dystrophies ranging from Leber's congenital amaurosis to ...
Grimm, Christian +8 more
core
Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date
The Application of Clinical Genetics, 2020 Srikanta Kumar Padhy,1 Brijesh Takkar,2,3 Raja Narayanan,2 Pradeep Venkatesh,4 Subhadra Jalali2,5 1Vitreoretina and Uveitis Services, L V Prasad Eye Institute, Mithu Tulsi Chanrai Campus, Bhubaneswar, India; 2Srimati Kanuri Santhamma Center for ...
Padhy SK +4 more
doaj
Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene [PDF]
, 2018 Purpose: To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). Methods: All accessible family members were included.
Ambresin, Aude +8 more
core
A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa. [PDF]
, 2013 PURPOSE: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness.
Chouchane, I. +6 more
core +1 more source
Unlocking therapeutic potential: dual gene therapy for ameliorating the disease phenotypes in a mouse model of RPE65 Leber congenital amaurosis. [PDF]
Front Med (Lausanne), 2023 Liu Y +5 more
europepmc +1 more source
A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility. [PDF]
Doc Ophthalmol, 2023 Sylla MM +5 more
europepmc +1 more source