Cargando…

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee

Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available in clinical practice. RPE65 gene accounts for a very...

Descripción completa

Detalles Bibliográficos
Autores principales:	Han, Jinu, Joo, Kwangsic, Kim, Ungsoo Samuel, Woo, Se Joon, Lee, Eun Kyoung, Lee, Joo Yong, Park, Tae Kwann, Kim, Sang Jin, Byeon, Suk Ho
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Ophthalmological Society 2023
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151174/ https://www.ncbi.nlm.nih.gov/pubmed/36950921 http://dx.doi.org/10.3341/kjo.2023.0008

Ejemplares similares

An Economic Evaluation of Voretigene Neparvovec for the Treatment of Biallelic RPE65-Mediated Inherited Retinal Dystrophies in the UK
por: Viriato, Daniel, et al.
Publicado: (2020)

Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany
por: Uhrmann, Matthias Fritz, et al.
Publicado: (2020)

Prospect of retinal gene therapy following commercialization of voretigene neparvovec-rzyl for retinal dystrophy mediated by RPE65 mutation
por: Ameri, Hossein
Publicado: (2018)

Cost-effectiveness of voretigene neparvovec in the treatment of patients with inherited retinal disease with RPE65 mutation in Switzerland
por: Bhadhuri, Arjun, et al.
Publicado: (2022)

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy
por: Testa, Francesco, et al.
Publicado: (2022)

Cost-effectiveness of Voretigene Neparvovec-rzyl vs Standard Care for RPE65-Mediated Inherited Retinal Disease
por: Johnson, Scott, et al.
Publicado: (2019)

Bilateral exudative retinal detachments after subretinal gene therapy with voretigene neparvovec-rzyl for RPE65 Leber Congenital Amaurosis
por: Lidder, Alcina K., et al.
Publicado: (2023)

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center
por: Kiraly, Peter, et al.
Publicado: (2023)

Retinal Pigment Epithelium Atrophy After Subretinal Voretigene Neparvovec-rzyl for RPE65-Related Disease: A 6-Month Follow-Up
por: Giansanti, Fabrizio, et al.
Publicado: (2022)

Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl
por: Ku, Cristy A., et al.
Publicado: (2023)

Voretigene neparvovec for inherited retinal dystrophy
Publicado: (2021)

Retinal Structure in RPE65-Associated Retinal Dystrophy
por: Kumaran, Neruban, et al.
Publicado: (2020)

RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
por: Sodi, Andrea, et al.
Publicado: (2021)

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy
por: Sinim Kahraman, Neslihan, et al.
Publicado: (2022)

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
por: Kabir, Firoz, et al.
Publicado: (2013)

Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence
por: Kolesnikova, Masha, et al.
Publicado: (2022)

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants
por: Wu, Jiawen, et al.
Publicado: (2023)

Validation of a Vision-Guided Mobility Assessment for RPE65-Associated Retinal Dystrophy
por: Kumaran, Neruban, et al.
Publicado: (2020)

The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation
por: Wu, Wenjing, et al.
Publicado: (2022)

Computational studies for the structure and function of mRPE65
por: Guo, Hao, et al.
Publicado: (2007)

Late presentation of RPE65 retinopathy in three siblings
por: Magliyah, Moustafa, et al.
Publicado: (2020)

Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa
por: Kwak, Jay Jiyong, et al.
Publicado: (2022)

Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence
por: Gao, Jie, et al.
Publicado: (2020)

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants
por: Katagiri, Satoshi, et al.
Publicado: (2018)

Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation
por: Jánossy, Ágnes, et al.
Publicado: (2023)

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
por: Gao, Feng-Juan, et al.
Publicado: (2021)

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date
por: Padhy, Srikanta Kumar, et al.
Publicado: (2020)

Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec
por: Stingl, Krunoslav, et al.
Publicado: (2022)

Examining the Role of Cone-expressed RPE65 in Mouse Cone Function
por: Kolesnikov, Alexander V., et al.
Publicado: (2018)

A Comprehensive Study of the Retinal Phenotype of Rpe65-Deficient Dogs
por: Annear, Matthew J, et al.
Publicado: (2021)

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
por: Motta, Fabiana L., et al.
Publicado: (2019)

Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
por: Shi, Jie, et al.
Publicado: (2021)

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review
por: Sallum, Juliana M. F., et al.
Publicado: (2022)

Lentiviral mediated RPE65 gene transfer in healthy hiPSCs-derived retinal pigment epithelial cells markedly increased RPE65 mRNA, but modestly protein level
por: Udry, Florian, et al.
Publicado: (2020)

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells
por: Hey, Caroline Amalie Brunbjerg, et al.
Publicado: (2021)

Differential neuroglycan C expression during retinal degeneration in Rpe65(−/−) mice
por: Escher, Pascal, et al.
Publicado: (2008)

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
por: Xu, Fei, et al.
Publicado: (2012)

The dual roles of RPE65 S-palmitoylation in membrane association and visual cycle function
por: Uppal, Sheetal, et al.
Publicado: (2019)

The clinical features of retinal disease due to a dominant mutation in RPE65
por: Hull, Sarah, et al.
Publicado: (2016)

Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients
por: Testa, Francesco, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_jb8ei3ar3ur0oup4uetf7mspb8