Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Inherited retinal dystrophy: first results of RPE65 gene replacement therapy in Russia].

Vestnik oftalmologii - 1 Jan 2022

Kadyshev V V, Zolnikova I V, Khalanskaya O V, Stepanova A A, Kutsev S I

Abstract excerpt

PURPOSE: To present the main aspects of interdisciplinary diagnostics of patients with hereditary retinal diseases and the first results of the follow-up of patients with inherited retinal dystrophies (IRD) caused by biallelic mutations in the gene RPE65 after gene replacement therapy in Russia. MATERIAL AND METHODS: The cohort of patients consisted of six children (5-15 years old) with the diagnosis of Leber...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to cis-trans-Isomerases

Share to Genetic Therapy

Share to Leber Congenital Amaurosis

Share to Retina

Share to Retinal Dystrophies

Source

Identifiers

PMID: 36004591
DOI: 10.17116/oftalma202213804148

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Inherited retinal dystrophy: first results of RPE65 gene replacement therapy in Russia].PMID 36004591Read ↗

[Diagnostics of inherited retinal degenerations by gene therapy].Semantic proximity Read ↗

Prospect of retinal gene therapy following commercialization of voretigene neparvovec-rzyl for retinal dystrophy mediated by RPE65 mutationSemantic proximity Read ↗

RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.Semantic proximity Read ↗

Gene therapy for RPE65-related retinal diseaseSemantic proximity Read ↗

The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil.Semantic proximity Read ↗

[Gene therapy for hereditary eye diseases].Semantic proximity Read ↗

[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies].Semantic proximity Read ↗

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

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.Semantic proximity Read ↗

Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.Semantic proximity Read ↗

[Gene therapy treatment based on an ophthalmic indication in hereditary retinal dystrophy caused by RPE65 biallelic gene mutation.]Semantic proximity Read ↗

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.