Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jfo.2021.09.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Mol Genet Genomic Med
January 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.
Background: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that plays a critical role in regenerating visual pigment in photoreceptor cells.
Methods: Exome sequencing (ES) was performed on a patient with suspected LCA.
Insights into the effects of subretinal voretigene neparvovec-rzyl in RPE65-associated Leber congenital amaurosis: an 18-Month report.
Can J Ophthalmol
January 2025
Department of Ophthalmology and Vision Sciences, the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON, Canada. Electronic address:
Objective: Assess safety and effectiveness of subretinal gene replacement therapy at 18 months post treatment.
Design: Retrospective, longitudinal study conducted at the Hospital for Sick Children in Toronto, Canada.
Participants: Patients with bi-allelic RPE65 variants, early onset retinal degeneration, and residual viable retina who underwent voretigene neparvovec r-zyl gene replacement therapy.
"Blindness" is not a contraindication for voretigene neparvovec-rzyl treatment: a review of 9 cases.
Can J Ophthalmol
January 2025
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. Electronic address:
Objective: Biallelic RPE65 pathogenic variants may cause Leber congenital amaurosis (LCA). Voretigene neparvovec-rzyl (VN, Luxturna) is the only approved subretinal gene therapy that demonstrated benefit and safety. The eligibility criteria are vague and variable between centres.
View Article and Find Full Text PDFDeep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy.
Invest Ophthalmol Vis Sci
January 2025
Institute for Applied Mathematics, University of Bonn, Bonn, Germany.
Purpose: To quantify outer retina structural changes and define novel biomarkers of inherited retinal degeneration associated with biallelic mutations in RPE65 (RPE65-IRD) in patients before and after subretinal gene augmentation therapy with voretigene neparvovec (Luxturna).
Methods: Application of advanced deep learning for automated retinal layer segmentation, specifically tailored for RPE65-IRD. Quantification of five novel biomarkers for the ellipsoid zone (EZ): thickness, granularity, reflectivity, and intensity.
Canine models of inherited retinal diseases: from neglect to well-recognized translational value.
Mamm Genome
December 2024
Division of Experimental Retinal Therapies, Department of Clinical Sciences, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Large animal models of inherited retinal diseases, particularly dogs, have been extensively used over the past decades to study disease natural history and evaluate therapeutic interventions. Our group of investigators at the University of Pennsylvania, School of Veterinary Medicine, has played a pivotal role in characterizing several of these animal models, documenting the natural history of their diseases, developing gene therapies, and conducting proof-of-concept studies. Additionally, we have assessed the potential toxicity of these therapies for human clinical trials, contributing to the regulatory approval of voretigene neparvovec-rzyl (Luxturna) by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA) for the treatment of patients with confirmed biallelic mutation-associated retinal dystrophy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!